ATRIP Chromosome 3
ATR interacting protein
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What This Gene Does
This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000164053
Associated Conditions (2)
Seckel syndrome
Microcephalic Primordial Dwarfism with immunodeficiency
Key Variants
RS1159319927
Conflicting classifications of pathogenicity
Health Risk
RS137912936
Conflicting classifications of pathogenicity
Health Risk
RS145979024
Conflicting classifications of pathogenicity
Health Risk
RS183565971
Conflicting classifications of pathogenicity
Health Risk
RS199812903
Conflicting classifications of pathogenicity
Health Risk
RS2039977646
Conflicting classifications of pathogenicity
Health Risk
RS371594330
Conflicting classifications of pathogenicity
Health Risk
RS373330865
Conflicting classifications of pathogenicity
Health Risk
RS374538550
Conflicting classifications of pathogenicity
Health Risk
RS72556553
Conflicting classifications of pathogenicity
Health Risk
RS757688146
Conflicting classifications of pathogenicity
Health Risk
RS2107215447
Pathogenic/Likely pathogenic
Seckel syndrome, Microcephalic Primordial Dwarfism with immunodeficiency, Seckel syndrome
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1159319927 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137912936 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145979024 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS183565971 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199812903 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2039977646 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371594330 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373330865 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374538550 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS72556553 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757688146 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2107215447 | Health Risk | Pathogenic/Likely pathogenic | Seckel syndrome, Microcephalic Primordial Dwarfism with immunodeficiency, Seckel syndrome |