Varaico: Literature-Extracted Genetic Variants

Gene:GSDMD
Variant:p.P52insFs

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.P52insFs
c.154_155ins5
Surrounding Variants
1 paper
NM_024736.7
p.K51R
c.152A>G
1 paper
NM_024736.7
p.K51E
c.151A>G
1 paper
NM_024736.7
p.W50G
c.148T>G
1 paper
NM_024736.7
p.N58K
c.174C>G
1 paper
NM_024736.7
p.K43E
c.127A>G
1 paper
NM_024736.7
p.V41I
c.121G>A
2 papers
NM_024736.7
p.I64I
c.192C>A
1 paper
NM_024736.7
p.L39delFs
c.115delC
1 paper
NM_024736.7
p.A69V
c.206C>T
1 paper
NM_024736.7
p.T26N
c.77C>A
1 paper
NM_024736.7
p.G20R
c.58G>A
1 paper
NM_024736.7
p.G20R
c.58G>C
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