MCL1
MCL1 apoptosis regulator, BCL2 family member
Summary
This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs878471 | 1:150,547,747 | G/A | regulatory region variant | — |
| rs34355066 | 1:150,549,526 | C/A | regulatory region variant | — |
| rs781152860 | 1:150,549,866 | T/C | — | likely benign |
| rs1186393634 | 1:150,549,873 | C/A | — | uncertain significance |
| rs368871667 | 1:150,549,944 | A/G | — | likely benign |
| rs1223742436 | 1:150,550,727 | C/T | — | uncertain significance |
| rs34645101 | 1:150,550,924 | T/C | — | benign |
| rs199766529 | 1:150,551,310 | C/A | — | benign |
| rs11580946 | 1:150,551,327 | G/A | missense variant | — |
| rs2101697531 | 1:150,551,334 | C/G | — | uncertain significance |
| rs149932083 | 1:150,551,576 | A/G | — | uncertain significance |
| rs151065075 | 1:150,551,649 | T/C | — | benign |
| rs372948653 | 1:150,551,685 | G/C | — | uncertain significance |
| rs773052989 | 1:150,551,700 | G/A | — | uncertain significance |
| rs1570983533 | 1:150,551,703 | T/G | — | uncertain significance |
| rs587712554 | 1:150,551,874 | G/A | — | uncertain significance |
| rs919674275 | 1:150,551,876 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.