Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D52E

SMAD4

2,432 papers

RefSeq Summary

This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transfor...

Pfam Domains

MH1aa 36–137UCSCMH1 domain
MH2aa 321–530UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 4

HGNC Previous Symbol

MADH4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005359.6
p.D52E
c.156T>A
Surrounding Variants
1 paper
NM_005359.6
p.D52E
c.156T>G
3 papers
NM_005359.6
p.D52G
c.155A>G
2 papers
NM_005359.6
p.E53K
c.157G>A
6 papers
NM_005359.6
p.E53*
c.157G>T
1 paper
NM_005359.6
p.E53fs
c.157_158fs
1 paper
NM_005359.6
p.E53_L54delFs
c.158_161del4
5 papers
NM_005359.6
p.D52fs
c.154_155fs
4 papers
NM_005359.6
p.D52fs
c.154_155fs
1 paper
NM_005359.6
p.E53_L54insFs
c.159_160ins4
1 paper
NM_005359.6
p.K51R
c.152A>G
1 paper
NM_005359.6
p.K51*
c.151A>T
1 paper
NM_005359.6
p.L54W
c.161T>G
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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."