CBLC
Cbl proto-oncogene C
Summary
This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749288188 | 19:45,281,303 | G/A | — | likely benign |
| rs1397115734 | 19:45,281,310 | C/G | — | uncertain significance |
| rs2513633903 | 19:45,281,397 | C/T | — | uncertain significance |
| rs1967620512 | 19:45,281,414 | T/C | — | uncertain significance |
| rs766618955 | 19:45,281,551 | C/G | — | likely benign |
| rs201563104 | 19:45,284,164 | G/A | — | uncertain significance |
| rs142893738 | 19:45,284,172 | G/T | — | uncertain significance |
| rs140833100 | 19:45,284,203 | A/T | — | uncertain significance |
| rs144857168 | 19:45,284,235 | A/G | — | uncertain significance |
| rs771366662 | 19:45,284,248 | A/G | — | uncertain significance |
| rs1190196751 | 19:45,284,250 | A/G | — | likely benign |
| rs371124704 | 19:45,284,281 | C/A | — | uncertain significance |
| rs752145860 | 19:45,284,307 | C/G | — | uncertain significance |
| rs2513641027 | 19:45,284,553 | C/T | — | uncertain significance |
| rs80168591 | 19:45,284,627 | G/A | splice region variant | — |
| rs61755281 | 19:45,287,654 | G/A | — | uncertain significance |
| rs139273613 | 19:45,293,332 | G/A | — | likely benign |
| rs758907585 | 19:45,295,646 | C/G | — | uncertain significance |
| rs971614881 | 19:45,295,728 | C/T | — | uncertain significance |
| rs113330691 | 19:45,295,886 | G/A | regulatory region variant | — |
| rs145031198 | 19:45,296,538 | G/T | — | — |
| rs3208856 | 19:45,296,806 | C/G | missense variant | — |
| rs139425456 | 19:45,297,373 | T/A | intron variant | — |
| rs557733635 | 19:45,297,473 | G/T | — | uncertain significance |
| rs186872766 | 19:45,300,939 | G/C | intron variant | — |
| rs139997344 | 19:45,302,277 | C/T | intron variant | — |
| rs10418198 | 19:45,303,311 | G/A | regulatory region variant | — |
| rs754656011 | 19:45,303,655 | C/G | — | uncertain significance |
| rs904426529 | 19:45,303,669 | C/T | — | uncertain significance |
| rs746139762 | 19:45,303,689 | G/A | — | uncertain significance |
| rs12327715 | 19:45,304,061 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.