Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.N135K

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.N135K
c.405C>A
Surrounding Variants
1 paper
NM_001165958.2
p.N135K
c.405C>G
1 paper
NM_001165958.2
p.R136Splc
c.407+2T>C
1 paper
NM_001165958.2
p.L133I
c.397C>A
1 paper
NM_001165958.2
p.A131A
c.393T>A
2 papers
NM_001165958.2
p.A131V
c.392C>T
2 papers
NM_001165958.2
p.A131G
c.392C>G
1 paper
NM_001165958.2
p.R136Splc
c.407+12G>T
1 paper
NM_001165958.2
p.A131_T132insA
c.391_395ins3
1 paper
NM_001165958.2
p.L130Q
c.389T>A
1 paper
NM_001165958.2
p.L130V
c.388C>G
1 paper
NM_001165958.2
p.I125K
c.374T>A
1 paper
NM_001165958.2
p.R124_I125insFs
c.372_373insC
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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."