Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A425G

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
2 papers
NM_005359.6
p.A425G
c.1274C>G
Surrounding Variants
1 paper
NM_005359.6
p.A425delFs
c.1275delT
1 paper
NM_005359.6
p.A425fs
c.1273_1274fs
1 paper
NM_005359.6
p.V426I
c.1276G>A
5 papers
NM_005359.6
p.D424N
c.1270G>A
1 paper
NM_005359.6
p.D424H
c.1270G>C
1 paper
NM_005359.6
p.H427_P431del0
c.1280_1291del12
1 paper
NM_005359.6
p.H427N
c.1279C>A
2 papers
NM_005359.6
p.H427L
c.1280A>T
1 paper
NM_005359.6
p.G423A
c.1268G>C
2 papers
NM_005359.6
p.G423V
c.1268G>T
1 paper
NM_005359.6
p.G423delins
c.1268_1269delinsTG
1 paper
NM_005359.6
p.G423R
c.1267G>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."