Varaico: Literature-Extracted Genetic Variants

Gene:GSDMD
Variant:p.R178Q

GSDMD

97 papers

RefSeq Summary

Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Al...

Pfam Domains

Gasderminaa 4–242UCSCGasdermin pore forming domain
Gasdermin_Caa 286–456UCSCGasdermin PUB domain

Gene Aliases

HGNC Name

gasdermin D

HGNC Previous Symbol

GSDMDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024736.7
p.R178Q
c.533G>A
Surrounding Variants
1 paper
NM_024736.7
p.K177E
c.529A>G
3 papers
NM_024736.7
p.S181L
c.542C>T
1 paper
NM_024736.7
p.T173M
c.518C>T
1 paper
NM_024736.7
p.V172I
c.514G>A
1 paper
NM_024736.7
p.E171insFs
c.512dupA
1 paper
NM_024736.7
p.L186M
c.556C>A
1 paper
NM_024736.7
p.Q167H
c.501G>C
1 paper
NM_024736.7
p.V159E
c.476T>A
1 paper
NM_024736.7
p.G154R
c.460G>A
1 paper
NM_024736.7
p.G154R
c.460G>C
1 paper
NM_024736.7
p.G154_D155ins5
c.460_464ins15
1 paper
NM_024736.7
p.R153H
c.458G>A
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