Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.L96M

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.L96M
c.286T>A
Surrounding Variants
1 paper
NM_001165958.2
p.V90_L96delFs
c.268_286del19
1 paper
NM_001165958.2
p.L96L
c.288G>A
2 papers
NM_001165958.2
p.I97T
c.290T>C
1 paper
NM_001165958.2
p.T93insFs
c.277_278insGA
1 paper
NM_001165958.2
p.R99insFs
c.295dupA
1 paper
NM_001165958.2
p.E95_R99delFs
c.283_296del14
1 paper
NM_001165958.2
p.P101L
c.302C>T
2 papers
NM_001165958.2
p.V90A
c.269T>C
1 paper
NM_001165958.2
p.N89I
c.266A>T
1 paper
NM_001165958.2
p.N89S
c.266A>G
3 papers
NM_001165958.2
p.D88Y
c.262G>T
1 paper
NM_001165958.2
p.D88N
c.262G>A
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