Varaico: Literature-Extracted Genetic Variants

Gene:GSDMD
Variant:p.D275A

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
3 papers
NM_024736.7
p.D275A
c.824A>C
Surrounding Variants
1 paper
NM_024736.7
p.D275N
c.823G>A
3 papers
NM_024736.7
p.D275H
c.823G>C
1 paper
NM_024736.7
p.S252N
c.755G>A
2 papers
NM_024736.7
p.T251R
c.752C>G
2 papers
NM_024736.7
p.T251M
c.752C>T
1 paper
NM_024736.7
p.R249H
c.746G>A
1 paper
NM_024736.7
p.R249insFs
c.745dupC
1 paper
NM_024736.7
p.K248R
c.743A>G
1 paper
NM_024736.7
p.K299R
c.896A>G
3 papers
NM_024736.7
p.D305N
c.913G>A
1 paper
NM_024736.7
p.D305A
c.914A>C
1 paper
NM_024736.7
p.V319A
c.956T>C
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