Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.D71A

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
1 paper
NM_001165958.2
p.D71A
c.212A>C
Surrounding Variants
1 paper
NM_001165958.2
p.D71V
c.212A>T
2 papers
NM_001165958.2
p.D71G
c.212A>G
1 paper
NM_001165958.2
p.D71Y
c.211G>T
1 paper
NM_001165958.2
p.D71_E72insFs
c.213_214insT
1 paper
NM_001165958.2
p.L70insFs
c.209_210insG
1 paper
NM_001165958.2
p.T64_W69del0
c.191_205del15
6 papers
NM_001165958.2
p.D74Y
c.220G>T
9 papers
NM_001165958.2
p.D74N
c.220G>A
1 paper
NM_001165958.2
p.D74V
c.221A>T
2 papers
NM_001165958.2
p.D74A
c.221A>C
1 paper
NM_001165958.2
p.D74fs
c.220_221fs
1 paper
NM_001165958.2
p.D74E
c.222T>A
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