Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.S180R

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
Selected Variant
19 papers
NM_001165958.2
p.S180R
c.540C>G
Surrounding Variants
10 papers
NM_001165958.2
p.S180S
c.540C>T
1 paper
NM_001165958.2
p.S183F
c.548C>T
1 paper
NM_001165958.2
p.K177K
c.531A>G
1 paper
NM_001165958.2
p.K177R
c.530A>G
1 paper
NM_001165958.2
p.G185delFs
c.555delG
1 paper
NM_001165958.2
p.R174W
c.520C>T
1 paper
NM_001165958.2
p.S188N
c.563G>A
1 paper
NM_001165958.2
p.S172N
c.515G>A
1 paper
NM_001165958.2
p.K171E
c.511A>G
1 paper
NM_001165958.2
p.L170Q
c.509T>A
1 paper
NM_001165958.2
p.T169_L170delins
c.507_508delinsTT
1 paper
NM_001165958.2
p.K192N
c.576G>C
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