Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.R124L

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.R124L
c.371G>T
Surrounding Variants
1 paper
NM_001165958.2
p.R124_I125insFs
c.372_373insC
3 papers
NM_001165958.2
p.R124R
c.372G>C
1 paper
NM_001165958.2
p.I125K
c.374T>A
3 papers
NM_001165958.2
p.E122G
c.365A>G
1 paper
NM_001165958.2
p.I120T
c.359T>C
1 paper
NM_001165958.2
p.K119insFs
c.356_357ins4
1 paper
NM_001165958.2
p.L130V
c.388C>G
1 paper
NM_001165958.2
p.L130Q
c.389T>A
1 paper
NM_001165958.2
p.I118F
c.352A>T
1 paper
NM_001165958.2
p.A131_T132insA
c.391_395ins3
2 papers
NM_001165958.2
p.A131V
c.392C>T
2 papers
NM_001165958.2
p.A131G
c.392C>G
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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."