Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB

GSDMB

822 papers

RefSeq 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. ...

Pfam Domains

Gasderminaa 4–233UCSCGasdermin pore forming domain
Gasdermin_Caa 250–390UCSCGasdermin PUB domain

Gene Aliases

HGNC Name

gasdermin B

HGNC Previous Symbol

GSDML

Papers
RefSeq ID
Protein change
DNA change
1–12 of 326 variants
21 papers
NM_001165958.2
p.V12L
c.34G>T
19 papers
NM_001165958.2
p.S180R
c.540C>G
17 papers
NM_001165958.2
p.Q194*
c.580C>T
10 papers
NM_001165958.2
p.S180S
c.540C>T
9 papers
NM_001165958.2
p.D74N
c.220G>A
8 papers
NM_001165958.2
p.L58L
c.172C>T
6 papers
NM_001165958.2
p.D74Y
c.220G>T
6 papers
NM_001165958.2
p.G304R
c.910G>C
6 papers
NM_001165958.2
p.G304R
c.910G>A
5 papers
NM_001165958.2
p.Q80*
c.238C>T
5 papers
NM_001165958.2
p.N221Splc
c.662-2A>G
4 papers
NM_001165958.2
p.P311S
c.931C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."