Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.M59L

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.M59L
c.175A>T
Surrounding Variants
3 papers
NM_001165958.2
p.M59R
c.176T>G
1 paper
NM_001165958.2
p.L58_M59delFs
c.174_175delTC
2 papers
NM_001165958.2
p.D60Y
c.178G>T
1 paper
NM_001165958.2
p.D60H
c.178G>C
8 papers
NM_001165958.2
p.L58L
c.172C>T
2 papers
NM_001165958.2
p.T57I
c.170C>T
1 paper
NM_001165958.2
p.D60E
c.180C>G
1 paper
NM_001165958.2
p.T57S
c.169A>T
1 paper
NM_001165958.2
p.I61N
c.182T>A
1 paper
NM_001165958.2
p.L56H
c.167T>A
1 paper
NM_001165958.2
p.L62V
c.184C>G
2 papers
NM_001165958.2
p.L62P
c.185T>C
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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."