Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.S303P

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.S303P
c.907T>C
Surrounding Variants
7 papers
NM_001042471.2
p.G291R
c.871G>C
NM_001165958.2
p.G304R
c.910G>C
7 papers
NM_001042471.2
p.G291R
c.871G>A
NM_001165958.2
p.G304R
c.910G>A
1 paper
NM_001165958.2
p.E305D
c.915G>C
1 paper
NM_001165959.2
p.V291I
c.871G>A
1 paper
NM_001165958.2
p.L306L
c.916C>T
1 paper
NM_001165959.2
p.H298Y
c.892C>T
1 paper
NM_001165958.2
p.E309insFs
c.926_927insG
6 papers
NM_001042471.2
p.P298S
c.892C>T
NM_018530.3
p.P289S
c.865C>T
NM_001165958.2
p.P311S
c.931C>T
1 paper
NM_001165958.2
p.D312N
c.934G>A
1 paper
NM_001165958.2
p.K313N
c.939G>T
1 paper
NM_001165958.2
p.K313N
c.939G>C
1 paper
NM_001165958.2
p.S317N
c.950G>A
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