GSDMB
gasdermin B
Summary
This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748390249 | 17:38,061,210 | G/T | — | uncertain significance |
| rs4795399 | 17:38,061,439 | T/C | intron variant | — |
| rs199978390 | 17:38,061,700 | G/A | — | likely benign |
| rs200329027 | 17:38,062,141 | G/A | — | uncertain significance |
| rs966096753 | 17:38,062,163 | C/A | — | uncertain significance |
| rs2305480 | 17:38,062,196 | G/A | missense variant | — |
| rs1598273186 | 17:38,062,211 | G/A | — | likely benign |
| rs2545234485 | 17:38,062,404 | C/T | — | uncertain significance |
| rs757200396 | 17:38,062,471 | T/C | — | uncertain significance |
| rs1292864184 | 17:38,062,497 | C/T | — | uncertain significance |
| rs35104165 | 17:38,062,503 | T/C | missense variant | — |
| rs11078927 | 17:38,064,405 | C/T | intron variant | — |
| rs12939832 | 17:38,064,876 | G/A | intron variant | — |
| rs150838130 | 17:38,065,216 | G/A | — | uncertain significance |
| rs552097998 | 17:38,066,010 | T/G | — | uncertain significance |
| rs747056027 | 17:38,066,064 | C/T | — | uncertain significance |
| rs147293765 | 17:38,066,145 | C/T | — | likely benign |
| rs2290400 | 17:38,066,240 | T/C | intron variant | — |
| rs56380902 | 17:38,066,372 | T/A | — | — |
| rs4795400 | 17:38,067,020 | C/T | intron variant | — |
| rs4795401 | 17:38,067,533 | A/C | — | — |
| rs1011082 | 17:38,068,514 | T/C | intron variant | — |
| rs746675335 | 17:38,068,624 | G/A | — | likely benign |
| rs770663457 | 17:38,068,626 | T/C | — | uncertain significance |
| rs2545263626 | 17:38,068,630 | T/C | — | uncertain significance |
| rs2545263929 | 17:38,068,672 | G/A | — | uncertain significance |
| rs1357614367 | 17:38,068,673 | T/A | — | uncertain significance |
| rs921650 | 17:38,069,076 | G/A | intron variant | — |
| rs7216558 | 17:38,070,071 | C/G | — | — |
| rs8065777 | 17:38,072,402 | C/T | downstream gene variant | — |
| rs1164315955 | 17:38,073,422 | G/A | — | uncertain significance |
| rs903168013 | 17:38,073,423 | G/A | — | likely benign |
| rs1476280637 | 17:38,073,446 | C/T | — | likely benign |
| rs778329550 | 17:38,073,494 | T/C | — | uncertain significance |
| rs369141327 | 17:38,073,497 | C/T | — | uncertain significance |
| rs147222506 | 17:38,073,498 | G/A | — | benign |
| rs9303280 | 17:38,074,031 | T/A | — | — |
| rs7224129 | 17:38,075,426 | G/A | upstream gene variant | — |
| rs7216389 | 17:39,913,990 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.