Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.D17A

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.D17A
c.50A>C
Surrounding Variants
1 paper
NM_001165958.2
p.D17_A18insFs
c.51_52insC
1 paper
NM_001165958.2
p.D17N
c.49G>A
2 papers
NM_001165958.2
p.M16R
c.47T>G
1 paper
NM_001165958.2
p.E15_M16delFs
c.43_46del4
2 papers
NM_001165958.2
p.M16_D17delFs
c.47_50del4
1 paper
NM_001165958.2
p.A18A
c.54T>A
1 paper
NM_001165958.2
p.E15E
c.45G>A
1 paper
NM_001165958.2
p.G19V
c.56G>T
1 paper
NM_001165958.2
p.E15K
c.43G>A
1 paper
NM_001165958.2
p.A18_G19ins0
c.52_57dup6
1 paper
NM_001165958.2
p.G20A
c.59G>C
1 paper
NM_001165958.2
p.K14insFs
c.40_41ins16
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