Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.K81E

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.K81E
c.241A>G
Surrounding Variants
1 paper
NM_001165958.2
p.K81_A82insFs
c.243_244insA
1 paper
NM_001165958.2
p.Q80L
c.239A>T
5 papers
NM_001165958.2
p.Q80*
c.238C>T
1 paper
NM_001165958.2
p.A82V
c.245C>T
1 paper
NM_001165958.2
p.A82delFs
c.245delG
1 paper
NM_001165958.2
p.G79Splc
c.236-1G>T
1 paper
NM_001165958.2
p.Q85H
c.255A>T
2 papers
NM_001165958.2
p.Q85Q
c.255A>G
1 paper
NM_001165958.2
p.Q85H
c.255A>C
1 paper
NM_001165958.2
p.Q80_Q85delFs
c.238_254del17
1 paper
NM_001165958.2
p.I86_L87insA
c.256_260ins3
2 papers
NM_001165958.2
p.Q80_Q85delFs
c.240_253del14
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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."