Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.R44K

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.R44K
c.131G>A
Surrounding Variants
1 paper
NM_001165958.2
p.R44I
c.131G>T
1 paper
NM_001165958.2
p.R44insFs
c.131_132insA
2 papers
NM_001165958.2
p.T45I
c.134C>T
1 paper
NM_001165958.2
p.R44_T45insFs
c.132_133insAA
1 paper
NM_001165958.2
p.K43M
c.128A>T
1 paper
NM_001165958.2
p.E42_T45del0
c.126_134del9
1 paper
NM_001165958.2
p.K43E
c.127A>G
1 paper
NM_001165958.2
p.L39L
c.117G>C
1 paper
NM_001165958.2
p.L39L
c.115C>T
2 papers
NM_001165958.2
p.R50W
c.148C>T
1 paper
NM_001165958.2
p.H51_Y52insC
c.151_155ins3
1 paper
NM_001165958.2
p.H51N
c.151C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."