SPRTN
SprT-like N-terminal domain
Summary
The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs576674728 | 1:231,474,253 | A/T | — | uncertain significance |
| rs370771864 | 1:231,475,532 | G/A | — | uncertain significance |
| rs2527142632 | 1:231,475,561 | A/C | — | uncertain significance |
| rs149447916 | 1:231,483,548 | C/G | — | likely benign |
| rs527236213 | 1:231,483,571 | A/G | missense variant | pathogenic |
| rs147506920 | 1:231,483,590 | C/T | — | likely benign |
| rs200366145 | 1:231,483,598 | A/G | — | uncertain significance |
| rs1687110874 | 1:231,483,664 | A/G | — | uncertain significance |
| rs2295420 | 1:231,485,640 | C/G | — | — |
| rs2474634 | 1:231,487,017 | T/C | — | benign |
| rs1469432812 | 1:231,487,069 | A/G | — | uncertain significance |
| rs73116379 | 1:231,487,133 | G/A | — | benign |
| rs150507607 | 1:231,487,139 | C/T | — | likely benign |
| rs201746938 | 1:231,487,227 | A/G | — | uncertain significance |
| rs142741946 | 1:231,487,275 | G/C | — | uncertain significance |
| rs905653984 | 1:231,487,304 | C/T | — | likely benign |
| rs150025485 | 1:231,487,307 | A/G | — | likely benign |
| rs150337169 | 1:231,488,423 | A/G | — | likely benign |
| rs138955204 | 1:231,488,456 | C/G | — | uncertain significance |
| rs2437150 | 1:231,488,524 | C/T | — | benign |
| rs78209580 | 1:231,488,541 | G/A | — | benign |
| rs1262627293 | 1:231,488,579 | T/A | — | uncertain significance |
| rs757430653 | 1:231,488,599 | G/T | — | uncertain significance |
| rs765473004 | 1:231,488,640 | G/A | — | uncertain significance |
| rs534347066 | 1:231,488,672 | T/C | — | likely benign |
| rs1687284891 | 1:231,488,688 | A/G | — | uncertain significance |
| rs2527182406 | 1:231,488,746 | G/A | — | uncertain significance |
| rs200135890 | 1:231,488,778 | A/C | — | uncertain significance |
| rs200999774 | 1:231,488,908 | A/G | — | likely benign |
| rs200987948 | 1:231,488,909 | A/C | — | likely benign |
| rs747733787 | 1:231,488,913 | C/A | — | uncertain significance |
| rs200841470 | 1:231,488,938 | C/T | — | uncertain significance |
| rs62617126 | 1:231,488,952 | A/T | — | benign |
| rs142369937 | 1:231,488,953 | C/T | — | uncertain significance |
| rs188253824 | 1:231,489,030 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.