Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.S3C

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.S3C
c.7A>T
Surrounding Variants
1 paper
NM_001165958.2
p.F2delFs
c.6delG
1 paper
NM_001165958.2
p.S3N
c.8G>A
1 paper
NM_001165958.2
p.F2L
c.6C>A
1 paper
NM_001165958.2
p.M1_S3delFs
c.1_8del8
2 papers
NM_001165958.2
p.F2V
c.4T>G
1 paper
NM_001165958.2
p.S3del1
c.7_8delGCT
2 papers
NM_001165958.2
p.M1I
c.3G>T
1 paper
NM_001165958.2
p.M1I
c.3G>C
2 papers
NM_001165958.2
p.M1I
c.3G>A
1 paper
NM_001165958.2
p.M1R
c.2T>G
3 papers
NM_001165958.2
p.M1T
c.2T>C
1 paper
NM_001165958.2
p.V4V
c.12A>G
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