Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.F47_R50del4

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.F47_R50del4
c.139_149del12
Surrounding Variants
1 paper
NM_001165958.2
p.H51_Y52insC
c.151_155ins3
1 paper
NM_001165958.2
p.H51N
c.151C>A
1 paper
NM_001165958.2
p.G41_R50del0
c.122_148del27
2 papers
NM_001165958.2
p.R50W
c.148C>T
1 paper
NM_001165958.2
p.T53T
c.159A>C
1 paper
NM_001165958.2
p.T54A
c.160A>G
1 paper
NM_001165958.2
p.Y52_T53delFs
c.156_157delTG
1 paper
NM_001165958.2
p.G55S
c.163G>A
1 paper
NM_001165958.2
p.G55fs
c.163_164fs
1 paper
NM_001165958.2
p.G55D
c.164G>A
1 paper
NM_001165958.2
p.L56H
c.167T>A
1 paper
NM_001165958.2
p.E42_T45del0
c.126_134del9
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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."