Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.E218delFs

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.E218delFs
c.652delC
Surrounding Variants
1 paper
NM_001165958.2
p.K217R
c.650A>G
1 paper
NM_001165958.2
p.V213_N216ins1
c.639_647dup9
1 paper
NM_001165958.2
p.N216S
c.647A>G
1 paper
NM_001165958.2
p.V213_F214insT
c.637_641ins3
1 paper
NM_001165958.2
p.L212P
c.635T>C
1 paper
NM_001165958.2
p.V209_K210insFs
c.627_628insA
1 paper
NM_001165958.2
p.V209_K210insG
c.625_629ins3
1 paper
NM_001165958.2
p.Y207H
c.619T>C
1 paper
NM_001165958.2
p.S206N
c.617G>A
1 paper
NM_001165958.2
p.L205M
c.613C>A
1 paper
NM_001165958.2
p.R203W
c.607C>T
1 paper
NM_001165958.2
p.N202_R203insT
c.604_608ins3
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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."