EXO1 Chromosome 1
Exonuclease 1
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What This Gene Does
This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Exonucleases|Rad2/XPG endonuclease family"
Locus Type
gene with protein product
Location
1q43
Ensembl
ENSG00000174371
Associated Conditions (17)
Hereditary breast ovarian cancer syndrome
EXO1-related disorder
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Cervical cancer
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Acute myeloid leukemia
Lung cancer
Malignant lymphoma
large B-cell
diffuse
Colon adenocarcinoma
Colorectal cancer
Ovarian serous cystadenocarcinoma
Melanoma
Familial cancer of breast
Ovarian cancer
Key Variants
RS149397534
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, EXO1-related disorder, Hereditary breast ovarian cancer syndrome
Health Risk
RS4150000
Conflicting classifications of pathogenicity
EXO1-related disorder, Clear cell carcinoma of kidney, Malignant tumor of esophagus
Health Risk
RS750915959
Likely pathogenic
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149397534 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, EXO1-related disorder, Hereditary breast ovarian cancer syndrome |
| RS4150000 | Health Risk | Conflicting classifications of pathogenicity | EXO1-related disorder, Clear cell carcinoma of kidney, Malignant tumor of esophagus |
| RS750915959 | Health Risk | Likely pathogenic | — |