SOX2
SRY-box transcription factor 2
Summary
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
Known Variants135 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1714830507 | 3:181,430,112 | C/T | — | benign |
| rs56073304 | 3:181,430,118 | C/T | — | benign |
| rs773470359 | 3:181,430,129 | G/T | — | likely benign |
| rs1576852580 | 3:181,430,138 | A/C | — | likely benign |
| rs1273721978 | 3:181,430,164 | G/T | — | pathogenic |
| rs983835728 | 3:181,430,169 | G/C | — | uncertain significance |
| rs1208628241 | 3:181,430,170 | G/T | — | pathogenic |
| rs771068335 | 3:181,430,181 | G/T | — | likely benign |
| rs760642461 | 3:181,430,187 | C/A | — | likely benign |
| rs1411645794 | 3:181,430,190 | G/T | — | likely benign |
| rs776333710 | 3:181,430,193 | G/A | — | likely benign |
| rs761649748 | 3:181,430,199 | T/C | — | likely benign |
| rs750091101 | 3:181,430,201 | C/A | — | pathogenic |
| rs757913217 | 3:181,430,202 | G/C | — | conflicting classifications of pathogenicity |
| rs1227940600 | 3:181,430,204 | G/T | — | uncertain significance |
| rs727504169 | 3:181,430,212 | G/A | — | conflicting classifications of pathogenicity |
| rs756496221 | 3:181,430,216 | G/T | — | uncertain significance |
| rs2108521445 | 3:181,430,217 | C/G | — | uncertain significance |
| rs749464287 | 3:181,430,224 | A/G | — | uncertain significance |
| rs1714839532 | 3:181,430,229 | G/C | — | uncertain significance |
| rs1470195221 | 3:181,430,233 | G/A | — | uncertain significance |
| rs1714841256 | 3:181,430,248 | C/T | — | uncertain significance |
| rs2108521561 | 3:181,430,261 | C/T | — | uncertain significance |
| rs765982831 | 3:181,430,275 | C/T | — | likely pathogenic |
| rs1714842576 | 3:181,430,279 | C/G | — | pathogenic |
| rs2473717217 | 3:181,430,281 | A/C | — | uncertain significance |
| rs104893806 | 3:181,430,286 | T/G | missense variant | pathogenic |
| rs1714843059 | 3:181,430,291 | T/C | — | likely pathogenic |
| rs145732415 | 3:181,430,298 | G/A | — | likely benign |
| rs2108521642 | 3:181,430,302 | T/C | — | likely pathogenic |
| rs759072077 | 3:181,430,304 | C/A | — | benign |
| rs2108521666 | 3:181,430,308 | G/T | — | uncertain significance |
| rs104893804 | 3:181,430,311 | C/T | stop gained | pathogenic |
| rs1560264293 | 3:181,430,314 | C/G | — | pathogenic |
| rs2473717315 | 3:181,430,315 | G/C | — | uncertain significance |
| rs886041378 | 3:181,430,329 | C/T | stop gained | pathogenic |
| rs2108521795 | 3:181,430,357 | A/G | — | uncertain significance |
| rs1409533266 | 3:181,430,358 | G/A | — | likely benign |
| rs104893805 | 3:181,430,369 | G/C | missense variant | pathogenic |
| rs2108521859 | 3:181,430,375 | G/A | — | likely pathogenic |
| rs201190086 | 3:181,430,379 | C/A | — | benign |
| rs1714845693 | 3:181,430,389 | C/T | — | uncertain significance |
| rs141391454 | 3:181,430,391 | T/G | — | likely benign |
| rs387906688 | 3:181,430,393 | T/A | stop gained | pathogenic |
| rs104893801 | 3:181,430,396 | C/A | stop gained | pathogenic |
| rs1007978252 | 3:181,430,402 | C/T | — | conflicting classifications of pathogenicity |
| rs2108521935 | 3:181,430,404 | G/T | — | pathogenic |
| rs104893800 | 3:181,430,425 | G/C | missense variant | uncertain significance |
| rs1714847764 | 3:181,430,435 | G/C | — | likely pathogenic |
| rs104893802 | 3:181,430,438 | T/C | missense variant | pathogenic |
| rs2108522086 | 3:181,430,443 | G/T | — | not provided |
| rs2108522102 | 3:181,430,450 | A/G | — | uncertain significance |
| rs2473717953 | 3:181,430,454 | G/A | — | uncertain significance |
| rs1260218988 | 3:181,430,458 | G/T | — | pathogenic |
| rs2108522189 | 3:181,430,477 | A/C | — | pathogenic |
| rs2108522196 | 3:181,430,478 | C/G | — | likely pathogenic |
| rs1553862987 | 3:181,430,482 | C/G | — | likely pathogenic |
| rs1560264395 | 3:181,430,485 | C/T | — | pathogenic |
| rs1262795478 | 3:181,430,496 | C/T | — | uncertain significance |
| rs1249553271 | 3:181,430,516 | A/G | — | pathogenic |
| rs1039432438 | 3:181,430,526 | G/A | — | likely benign |
| rs2108522356 | 3:181,430,531 | C/A | — | uncertain significance |
| rs121918652 | 3:181,430,537 | G/C | missense variant | pathogenic |
| rs377110178 | 3:181,430,545 | G/A | — | likely benign |
| rs1392475866 | 3:181,430,546 | C/T | — | uncertain significance |
| rs1010726615 | 3:181,430,558 | A/G | — | uncertain significance |
| rs1359642439 | 3:181,430,571 | C/T | — | likely benign |
| rs1560264525 | 3:181,430,572 | G/C | — | uncertain significance |
| rs753192651 | 3:181,430,577 | C/A | — | likely benign |
| rs764654757 | 3:181,430,589 | C/T | — | likely benign |
| rs74480245 | 3:181,430,601 | G/A | — | benign |
| rs2108522586 | 3:181,430,609 | A/C | — | uncertain significance |
| rs750665327 | 3:181,430,610 | C/A | — | uncertain significance |
| rs104893803 | 3:181,430,611 | C/T | stop gained | pathogenic |
| rs2108522598 | 3:181,430,616 | C/T | — | likely benign |
| rs2473718776 | 3:181,430,617 | A/G | — | uncertain significance |
| rs55683010 | 3:181,430,628 | C/G | stop gained | pathogenic |
| rs1393438018 | 3:181,430,635 | A/G | — | likely benign |
| rs756101843 | 3:181,430,643 | C/A | — | likely benign |
| rs2108522646 | 3:181,430,645 | G/A | — | pathogenic |
| rs2108522652 | 3:181,430,646 | G/A | — | pathogenic |
| rs771393751 | 3:181,430,653 | G/A | — | uncertain significance |
| rs942268696 | 3:181,430,654 | G/A | — | uncertain significance |
| rs2108522679 | 3:181,430,661 | C/G | — | pathogenic |
| rs104893799 | 3:181,430,677 | C/T | stop gained | pathogenic |
| rs376567372 | 3:181,430,684 | G/T | — | uncertain significance |
| rs771521201 | 3:181,430,688 | C/G | — | pathogenic |
| rs780758587 | 3:181,430,700 | G/T | — | likely benign |
| rs1714863034 | 3:181,430,703 | C/A | — | likely benign |
| rs1394727952 | 3:181,430,708 | A/G | — | benign |
| rs147606682 | 3:181,430,709 | T/C | — | likely benign |
| rs2108522856 | 3:181,430,716 | G/A | — | uncertain significance |
| rs104893808 | 3:181,430,719 | G/A | missense variant | pathogenic |
| rs1222809271 | 3:181,430,721 | A/G | — | likely benign |
| rs1438385283 | 3:181,430,737 | A/G | — | uncertain significance |
| rs2473719330 | 3:181,430,739 | G/A | — | uncertain significance |
| rs2473719360 | 3:181,430,747 | A/G | — | uncertain significance |
| rs1714865486 | 3:181,430,748 | C/G | — | likely pathogenic |
| rs754986575 | 3:181,430,752 | G/A | — | uncertain significance |
| rs2108522980 | 3:181,430,769 | C/A | — | pathogenic |
Showing 100 of 135 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.