Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.E7Q

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.E7Q
c.19G>C
Surrounding Variants
1 paper
NM_001165958.2
p.E7G
c.20A>G
2 papers
NM_001165958.2
p.E6V
c.17A>T
1 paper
NM_001165958.2
p.E7insFs
c.20dupA
1 paper
NM_001165958.2
p.F5S
c.14T>C
2 papers
NM_001165958.2
p.E7_I8delFs
c.19_23del5
1 paper
NM_001165958.2
p.T9P
c.25A>C
1 paper
NM_001165958.2
p.T9I
c.26C>T
1 paper
NM_001165958.2
p.T9R
c.26C>G
1 paper
NM_001165958.2
p.M1_I8del8
c.1_23del24
1 paper
NM_001165958.2
p.V4V
c.12A>G
1 paper
NM_001165958.2
p.S3del1
c.7_8delGCT
1 paper
NM_001165958.2
p.R10G
c.28A>G
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