SH2D3C
SH2 domain containing 3C
Summary
This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200069549 | 9:130,501,101 | C/T | — | uncertain significance |
| rs746657157 | 9:130,501,102 | G/A | — | uncertain significance |
| rs759348342 | 9:130,501,111 | G/T | — | uncertain significance |
| rs514024 | 9:130,504,070 | G/A | synonymous variant | — |
| rs140177554 | 9:130,504,155 | T/C | — | uncertain significance |
| rs145622720 | 9:130,504,168 | C/T | — | uncertain significance |
| rs761551007 | 9:130,504,201 | G/C | — | uncertain significance |
| rs750346642 | 9:130,504,207 | C/T | — | uncertain significance |
| rs2538924901 | 9:130,504,217 | C/A | — | uncertain significance |
| rs781631366 | 9:130,505,183 | T/C | — | uncertain significance |
| rs747830158 | 9:130,505,209 | T/C | — | uncertain significance |
| rs772926498 | 9:130,505,222 | T/C | — | uncertain significance |
| rs191866782 | 9:130,505,232 | T/C | — | uncertain significance |
| rs142604139 | 9:130,506,881 | G/A | — | uncertain significance |
| rs2233513 | 9:130,506,906 | C/T | — | benign |
| rs749292590 | 9:130,506,917 | G/A | — | uncertain significance |
| rs376156609 | 9:130,506,941 | G/A | — | uncertain significance |
| rs1482692100 | 9:130,507,004 | C/T | — | uncertain significance |
| rs755945078 | 9:130,507,021 | G/A | — | uncertain significance |
| rs761368464 | 9:130,507,126 | C/T | — | uncertain significance |
| rs767180121 | 9:130,507,132 | C/A | — | uncertain significance |
| rs200983289 | 9:130,507,139 | C/T | — | uncertain significance |
| rs1844976003 | 9:130,507,147 | T/A | — | uncertain significance |
| rs759898004 | 9:130,507,190 | T/C | — | uncertain significance |
| rs2538934415 | 9:130,507,241 | G/A | — | likely benign |
| rs61761896 | 9:130,507,316 | C/A | — | uncertain significance |
| rs1483675136 | 9:130,507,331 | G/C | — | uncertain significance |
| rs781179615 | 9:130,507,373 | G/A | — | uncertain significance |
| rs1168815688 | 9:130,509,461 | A/G | — | uncertain significance |
| rs915593071 | 9:130,509,493 | C/G | — | uncertain significance |
| rs374525455 | 9:130,509,518 | C/T | — | uncertain significance |
| rs1386182046 | 9:130,509,519 | G/A | — | uncertain significance |
| rs61761895 | 9:130,509,531 | G/C | — | likely benign |
| rs140336739 | 9:130,509,536 | C/T | — | likely benign |
| rs1036536192 | 9:130,509,539 | G/T | — | uncertain significance |
| rs373936140 | 9:130,511,556 | C/T | — | uncertain significance |
| rs745868179 | 9:130,511,559 | C/T | — | uncertain significance |
| rs149897538 | 9:130,511,560 | G/A | — | uncertain significance |
| rs199532954 | 9:130,511,596 | C/T | — | uncertain significance |
| rs756130268 | 9:130,511,719 | G/T | — | uncertain significance |
| rs570129981 | 9:130,511,736 | C/T | — | uncertain significance |
| rs773326869 | 9:130,511,801 | C/A | — | uncertain significance |
| rs776237326 | 9:130,513,483 | G/A | — | uncertain significance |
| rs1205169040 | 9:130,513,570 | C/T | — | uncertain significance |
| rs770390338 | 9:130,513,577 | G/C | — | uncertain significance |
| rs4837181 | 9:130,521,564 | C/A | intron variant | — |
| rs10739695 | 9:130,527,677 | A/G | intron variant | — |
| rs2417054 | 9:130,532,639 | G/A | — | — |
| rs758191915 | 9:130,536,278 | T/C | — | uncertain significance |
| rs149254119 | 9:130,536,308 | A/G | — | uncertain significance |
| rs144450318 | 9:130,536,325 | C/A | — | uncertain significance |
| rs766990169 | 9:130,536,340 | G/T | — | likely benign |
| rs375857347 | 9:130,536,459 | C/T | — | likely benign |
| rs753783234 | 9:130,536,579 | G/A | — | uncertain significance |
| rs139943112 | 9:130,536,647 | T/G | — | uncertain significance |
| rs764175116 | 9:130,536,686 | C/T | — | uncertain significance |
| rs2538986882 | 9:130,536,698 | G/A | — | uncertain significance |
| rs201637826 | 9:130,536,702 | G/A | — | uncertain significance |
| rs199653045 | 9:130,536,710 | T/C | — | uncertain significance |
| rs963355094 | 9:130,536,734 | A/G | — | uncertain significance |
| rs183995738 | 9:130,542,640 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.