ATR Chromosome 3
ATR checkpoint kinase
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What This Gene Does
The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Armadillo like helical domain containing|Phosphatidylinositol 3-kinase-related kinase family"
Locus Type
gene with protein product
Location
3q23
Ensembl
ENSG00000175054
Associated Conditions (17)
Seckel syndrome 1
Inborn genetic diseases
ATR-related disorder
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Malignant tumor of urinary bladder
Familial cancer of breast
Malignant tumor of breast
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Sarcoma
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Familial pancreatic carcinoma
Ovarian cancer
Hereditary cancer
Lymphoma
Cornelia de Lange syndrome 1
Hereditary cancer-predisposing syndrome
Key Variants
RS112726878
Conflicting classifications of pathogenicity
Seckel syndrome 1, Inborn genetic diseases, ATR-related disorder
Health Risk
RS1165501581
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS117926957
Conflicting classifications of pathogenicity
Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1
Health Risk
RS1188776082
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1310011888
Conflicting classifications of pathogenicity
Seckel syndrome 1, Seckel syndrome 1
Health Risk
RS138061993
Conflicting classifications of pathogenicity
Seckel syndrome 1, Inborn genetic diseases, ATR-related disorder
Health Risk
RS138350940
Conflicting classifications of pathogenicity
Inborn genetic diseases, ATR-related disorder, Seckel syndrome 1
Health Risk
RS138473993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139078985
Conflicting classifications of pathogenicity
Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1
Health Risk
RS139173669
Conflicting classifications of pathogenicity
Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1
Health Risk
RS141783863
Conflicting classifications of pathogenicity
Seckel syndrome 1, ATR-related disorder, Seckel syndrome 1
Health Risk
RS143306360
Conflicting classifications of pathogenicity
Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1
Health Risk
All Variants (182)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377134163 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS377186178 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 |
| RS377689383 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases |
| RS535140939 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS538761445 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS553507944 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS556313656 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS56100509 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS563040643 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 |
| RS587783328 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS587783340 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS74282951 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS746970647 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748067492 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS748613519 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS749947335 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750797892 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS752635785 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752654793 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS754976013 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS755364026 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757575787 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758046042 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1 |
| RS758666784 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS759350161 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Seckel syndrome 1, Inborn genetic diseases |
| RS759878676 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762125386 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762754313 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS763088062 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS763557914 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769719514 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS77208665 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS775198036 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome |
| RS778022363 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779467316 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS797045404 | Health Risk | Conflicting classifications of pathogenicity | Familial pancreatic carcinoma, Familial cancer of breast, Ovarian cancer |
| RS886044646 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886058053 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS886058057 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS886058058 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Seckel syndrome 1 |
| RS886058059 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 1, Inborn genetic diseases, Seckel syndrome 1 |
| RS1481733213 | Health Risk | Likely pathogenic | Seckel syndrome 1, Seckel syndrome 1 |
| RS1553761113 | Health Risk | Likely pathogenic | Seckel syndrome 1, Seckel syndrome 1 |
| RS1577488520 | Health Risk | Likely pathogenic | — |
| RS1577513795 | Health Risk | Likely pathogenic | — |
| RS199731535 | Health Risk | Likely pathogenic | — |
| RS201786773 | Health Risk | Likely pathogenic | — |
| RS2034767360 | Health Risk | Likely pathogenic | — |
| RS2108266332 | Health Risk | Likely pathogenic | Seckel syndrome 1, Seckel syndrome 1 |
| RS2108311768 | Health Risk | Likely pathogenic | — |