ERC1
ELKS/RAB6-interacting/CAST family member 1
Summary
The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140435811 | 12:1,137,086 | G/A | — | uncertain significance |
| rs61740169 | 12:1,137,117 | G/C | — | benign |
| rs749881506 | 12:1,137,133 | C/T | — | uncertain significance |
| rs1397684571 | 12:1,137,154 | C/T | — | uncertain significance |
| rs775689550 | 12:1,137,194 | C/T | — | uncertain significance |
| rs35037408 | 12:1,137,217 | G/A | — | benign |
| rs1225265599 | 12:1,137,329 | G/T | — | uncertain significance |
| rs146174236 | 12:1,137,366 | T/G | — | likely benign |
| rs138791726 | 12:1,137,369 | C/T | — | likely benign |
| rs535851221 | 12:1,137,377 | G/C | — | likely benign |
| rs770130777 | 12:1,137,392 | G/A | — | uncertain significance |
| rs141356033 | 12:1,137,433 | A/G | — | uncertain significance |
| rs1277274163 | 12:1,137,589 | G/A | — | uncertain significance |
| rs372323969 | 12:1,137,616 | A/G | — | uncertain significance |
| rs7139032 | 12:1,145,739 | G/A | intron variant | — |
| rs1942496045 | 12:1,192,469 | T/A | — | uncertain significance |
| rs187560506 | 12:1,192,686 | C/T | — | likely benign |
| rs912612332 | 12:1,192,687 | G/A | — | uncertain significance |
| rs746468698 | 12:1,213,926 | G/A | — | uncertain significance |
| rs758202677 | 12:1,213,931 | T/G | — | uncertain significance |
| rs372497149 | 12:1,219,371 | C/G | — | uncertain significance |
| rs36113377 | 12:1,219,375 | T/A | — | benign |
| rs147857333 | 12:1,219,440 | G/A | — | uncertain significance |
| rs372551806 | 12:1,219,491 | A/G | — | uncertain significance |
| rs150360885 | 12:1,221,435 | A/G | — | benign |
| rs138901829 | 12:1,225,157 | C/T | — | benign |
| rs374949092 | 12:1,225,172 | G/T | — | uncertain significance |
| rs201281749 | 12:1,250,928 | G/A | — | uncertain significance |
| rs113048688 | 12:1,262,177 | G/A | intron variant | — |
| rs778780521 | 12:1,289,700 | A/C | — | likely benign |
| rs2497772494 | 12:1,289,735 | C/A | — | uncertain significance |
| rs1026650339 | 12:1,289,752 | G/A | — | uncertain significance |
| rs377706150 | 12:1,291,095 | G/A | — | uncertain significance |
| rs141757454 | 12:1,291,100 | A/G | — | benign |
| rs1954529888 | 12:1,291,172 | G/A | — | uncertain significance |
| rs1346565415 | 12:1,291,174 | T/A | — | uncertain significance |
| rs766293084 | 12:1,291,212 | G/A | — | uncertain significance |
| rs1954694728 | 12:1,292,472 | A/G | — | uncertain significance |
| rs61758142 | 12:1,292,552 | G/C | — | uncertain significance |
| rs191680119 | 12:1,299,021 | A/G | — | benign |
| rs139035931 | 12:1,299,025 | G/A | — | uncertain significance |
| rs140918161 | 12:1,299,074 | G/A | — | uncertain significance |
| rs757912572 | 12:1,299,145 | C/G | — | uncertain significance |
| rs998691557 | 12:1,299,169 | G/A | — | uncertain significance |
| rs370750239 | 12:1,345,948 | C/G | — | uncertain significance |
| rs374319917 | 12:1,346,000 | A/G | — | uncertain significance |
| rs776148895 | 12:1,346,024 | C/T | — | uncertain significance |
| rs376405419 | 12:1,346,030 | G/A | — | uncertain significance |
| rs201360261 | 12:1,346,068 | C/A | — | uncertain significance |
| rs2079318945 | 12:1,399,073 | A/C | — | uncertain significance |
| rs11609223 | 12:1,419,127 | G/T | intron variant | — |
| rs147847605 | 12:1,481,021 | A/G | — | uncertain significance |
| rs35478691 | 12:1,481,038 | C/T | — | benign |
| rs573132476 | 12:1,481,040 | A/G | — | uncertain significance |
| rs2506450087 | 12:1,481,082 | A/T | — | uncertain significance |
| rs1181099489 | 12:1,481,132 | C/T | — | uncertain significance |
| rs10128898 | 12:1,494,432 | G/A | upstream gene variant | — |
| rs11061744 | 12:1,503,211 | C/T | — | — |
| rs73028374 | 12:1,547,385 | A/G | intron variant | — |
| rs1314408000 | 12:1,553,783 | T/G | — | uncertain significance |
| rs12319376 | 12:1,553,797 | A/G | — | benign |
| rs377422276 | 12:1,553,866 | G/A | — | uncertain significance |
| rs16928470 | 12:1,574,277 | G/A | intron variant | — |
| rs11613546 | 12:1,590,013 | C/T | — | benign |
| rs112807806 | 12:1,590,058 | G/T | — | likely benign |
| rs2510720293 | 12:1,599,258 | G/A | — | uncertain significance |
| rs2510720390 | 12:1,599,263 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.