Varaico: Literature-Extracted Genetic Variants

Gene:GSDMD
Variant:p.Y373D

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.Y373D
c.1117T>G
Surrounding Variants
1 paper
NM_024736.7
p.L353P
c.1058T>C
1 paper
NM_024736.7
p.G347S
c.1039G>A
1 paper
NM_024736.7
p.Q396R
c.1187A>G
1 paper
NM_024736.7
p.R327Q
c.980G>A
1 paper
NM_024736.7
p.V319A
c.956T>C
1 paper
NM_024736.7
p.D305A
c.914A>C
3 papers
NM_024736.7
p.D305N
c.913G>A
1 paper
NM_024736.7
p.K299R
c.896A>G
1 paper
NM_024736.7
p.G406G
c.1218C>T
1 paper
NM_024736.7
p.P424delFs
c.1270delC
1 paper
NM_024736.7
p.P424fs
c.1270_1271fs
1 paper
NM_024736.7
p.P424S
c.1270C>T
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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."