AAR2
AAR2 splicing factor
Summary
This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs772983440 | 20:34,827,807 | T/C | — | uncertain significance |
| rs769313669 | 20:34,827,926 | C/T | — | uncertain significance |
| rs772963408 | 20:34,827,927 | G/A | — | uncertain significance |
| rs530309921 | 20:34,828,002 | T/C | — | uncertain significance |
| rs548506013 | 20:34,828,058 | C/T | — | uncertain significance |
| rs751659734 | 20:34,828,110 | A/T | — | uncertain significance |
| rs147834617 | 20:34,828,133 | C/G | — | uncertain significance |
| rs2064663252 | 20:34,828,137 | A/T | — | uncertain significance |
| rs970697472 | 20:34,828,141 | G/A | — | likely benign |
| rs201761855 | 20:34,828,252 | G/C | — | uncertain significance |
| rs746800707 | 20:34,828,310 | G/A | missense variant | pathogenic |
| rs201316006 | 20:34,828,371 | G/A | — | uncertain significance |
| rs770583152 | 20:34,828,505 | G/A | — | uncertain significance |
| rs139427095 | 20:34,828,511 | A/T | — | uncertain significance |
| rs781465836 | 20:34,832,708 | C/T | — | uncertain significance |
| rs2517394524 | 20:34,832,715 | A/G | — | uncertain significance |
| rs141340897 | 20:34,843,605 | G/A | — | likely benign |
| rs201095536 | 20:34,843,624 | C/T | — | uncertain significance |
| rs761860922 | 20:34,843,647 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.