Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.N221S

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.N221S
c.662A>G
Surrounding Variants
1 paper
NM_001165958.2
p.N221D
c.661A>G
5 papers
NM_001165958.2
p.N221Splc
c.662-2A>G
1 paper
NM_001165958.2
p.H223Y
c.667C>T
1 paper
NM_001165958.2
p.H223Q
c.669T>G
1 paper
NM_001165958.2
p.G226V
c.677G>T
1 paper
NM_001165958.2
p.G226G
c.678C>T
1 paper
NM_001165958.2
p.K227E
c.679A>G
1 paper
NM_001165958.2
p.K229E
c.685A>G
1 paper
NM_001165958.2
p.E233A
c.698A>C
1 paper
NM_001165958.2
p.E218delFs
c.652delC
1 paper
NM_001165958.2
p.K217R
c.650A>G
1 paper
NM_001165958.2
p.V213_N216ins1
c.639_647dup9
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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."