MSH5
mutS homolog 5
Summary
This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28381346 | 6:31,708,154 | C/T | regulatory region variant | — |
| rs2151329363 | 6:31,708,302 | C/A | — | uncertain significance |
| rs2075789 | 6:31,708,328 | C/T | missense variant | benign |
| rs3131381 | 6:31,708,463 | C/A | regulatory region variant | — |
| rs760617988 | 6:31,708,944 | A/G | — | uncertain significance |
| rs758885613 | 6:31,708,989 | A/G | — | uncertain significance |
| rs779976920 | 6:31,709,038 | C/G | — | uncertain significance |
| rs28381349 | 6:31,709,045 | C/T | missense variant | benign |
| rs777790620 | 6:31,709,053 | T/G | — | likely benign |
| rs3131380 | 6:31,709,778 | A/G | upstream gene variant | — |
| rs112145890 | 6:31,710,688 | G/A | — | benign |
| rs752877507 | 6:31,710,896 | C/G | — | uncertain significance |
| rs28381355 | 6:31,711,572 | G/A | upstream gene variant | — |
| rs2537404922 | 6:31,711,726 | T/C | — | uncertain significance |
| rs147242972 | 6:31,711,740 | A/G | — | uncertain significance |
| rs751638760 | 6:31,711,791 | T/C | — | uncertain significance |
| rs1809169096 | 6:31,711,803 | G/A | — | pathogenic |
| rs374780489 | 6:31,711,910 | C/T | — | likely benign |
| rs373533126 | 6:31,711,971 | G/A | — | uncertain significance |
| rs149694647 | 6:31,712,003 | C/G | — | uncertain significance |
| rs375514940 | 6:31,712,015 | G/A | — | uncertain significance |
| rs755523006 | 6:31,712,337 | A/G | — | likely benign |
| rs3749953 | 6:31,713,124 | A/G | intron variant | — |
| rs12177823 | 6:31,713,823 | G/A | intron variant | — |
| rs3132443 | 6:31,714,031 | G/A | intron variant | — |
| rs3130484 | 6:31,715,882 | T/C | intron variant | — |
| rs28381365 | 6:31,717,597 | T/C | regulatory region variant | — |
| rs1150793 | 6:31,717,696 | A/G | intron variant | — |
| rs3117573 | 6:31,718,396 | C/G | regulatory region variant | — |
| rs3131379 | 6:31,721,033 | G/A | downstream gene variant | — |
| rs144471639 | 6:31,721,091 | C/T | — | likely pathogenic |
| rs146418933 | 6:31,721,141 | G/T | — | uncertain significance |
| rs755163320 | 6:31,721,214 | C/T | — | uncertain significance |
| rs753519199 | 6:31,721,356 | C/T | — | likely pathogenic |
| rs771603486 | 6:31,721,373 | C/A | — | uncertain significance |
| rs1384916782 | 6:31,721,386 | G/A | — | uncertain significance |
| rs3130486 | 6:31,722,780 | C/G | — | — |
| rs28399976 | 6:31,725,978 | C/G | — | conflicting classifications of pathogenicity |
| rs145281780 | 6:31,726,009 | G/A | — | likely benign |
| rs371214465 | 6:31,726,047 | A/G | — | uncertain significance |
| rs1810660839 | 6:31,726,337 | G/T | — | uncertain significance |
| rs1225712829 | 6:31,726,340 | A/G | — | uncertain significance |
| rs1426472892 | 6:31,726,346 | G/C | — | uncertain significance |
| rs760288512 | 6:31,726,549 | G/A | — | uncertain significance |
| rs201036343 | 6:31,726,560 | G/C | — | uncertain significance |
| rs3117576 | 6:31,726,794 | T/C | upstream gene variant | — |
| rs535334486 | 6:31,726,898 | C/T | — | uncertain significance |
| rs1007207158 | 6:31,726,952 | A/G | — | uncertain significance |
| rs1060505055 | 6:31,727,253 | G/T | missense variant | pathogenic |
| rs192714206 | 6:31,727,553 | C/A | — | likely benign |
| rs184719070 | 6:31,727,558 | C/A | — | likely benign |
| rs1364214339 | 6:31,727,564 | C/G | — | uncertain significance |
| rs141972312 | 6:31,727,611 | G/A | — | uncertain significance |
| rs773121271 | 6:31,727,710 | G/A | — | uncertain significance |
| rs3115672 | 6:31,727,897 | C/T | — | benign |
| rs45468693 | 6:31,727,919 | T/G | — | likely benign |
| rs61748589 | 6:31,727,989 | A/G | — | likely benign |
| rs2537479982 | 6:31,728,494 | G/A | — | uncertain significance |
| rs2537483209 | 6:31,729,007 | C/T | — | uncertain significance |
| rs375591471 | 6:31,729,282 | C/T | — | likely pathogenic |
| rs201166095 | 6:31,729,283 | G/A | — | uncertain significance |
| rs1292837626 | 6:31,729,315 | C/T | — | uncertain significance |
| rs707938 | 6:31,729,359 | G/A | — | benign |
| rs142634264 | 6:31,729,904 | C/G | — | uncertain significance |
| rs148601889 | 6:31,729,905 | G/A | — | uncertain significance |
| rs1802127 | 6:31,729,925 | C/T | missense variant | benign |
| rs2151381949 | 6:31,730,214 | A/G | — | uncertain significance |
| rs763472304 | 6:31,730,261 | G/A | — | likely benign |
| rs199880617 | 6:31,730,267 | A/G | — | uncertain significance |
| rs6905572 | 6:31,731,881 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.