Varaico: Literature-Extracted Genetic Variants

Gene:GSDMD

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
1–12 of 91 variants
3 papers
NM_024736.7
p.E15K
c.43G>A
3 papers
NM_024736.7
p.S181L
c.542C>T
3 papers
NM_024736.7
p.K204T
c.611A>C
3 papers
NM_024736.7
p.D275H
c.823G>C
3 papers
NM_024736.7
p.D275A
c.824A>C
3 papers
NM_024736.7
p.D305N
c.913G>A
2 papers
NM_024736.7
p.I64I
c.192C>A
2 papers
NM_024736.7
p.I104N
c.311T>A
2 papers
NM_024736.7
p.R153C
c.457C>T
2 papers
NM_024736.7
p.T251R
c.752C>G
2 papers
NM_024736.7
p.T251M
c.752C>T
2 papers
NM_024736.7
p.E451K
c.1351G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."