Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.H114Y

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
2 papers
NM_001165958.2
p.H114Y
c.340C>T
Surrounding Variants
1 paper
NM_001165958.2
p.G112_F113ins0
c.335_337dupGCT
1 paper
NM_001165958.2
p.H114delins
c.341_342delinsTT
1 paper
NM_001165958.2
p.Q116K
c.346C>A
1 paper
NM_001165958.2
p.Q116H
c.348G>T
1 paper
NM_001165958.2
p.Q116H
c.348G>C
3 papers
NM_001165958.2
p.K117R
c.350A>G
1 paper
NM_001165958.2
p.I118F
c.352A>T
1 paper
NM_001165958.2
p.K102_G108insFs
c.304_323dup20
1 paper
NM_001165958.2
p.G108delFs
c.322delC
1 paper
NM_001165958.2
p.K119insFs
c.356_357ins4
3 papers
NM_001165958.2
p.G108C
c.322G>T
2 papers
NM_001165958.2
p.G108R
c.322G>C
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