Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H371Q

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.H371Q
c.1113C>A
Surrounding Variants
1 paper
NM_005359.6
p.H371Q
c.1113C>G
2 papers
NM_005359.6
p.H371delFs
c.1113delC
1 paper
NM_005359.6
p.H371fs
c.1111_1112fs
2 papers
NM_005359.6
p.H371fs
c.1111_1112fs
1 paper
NM_005359.6
p.T373_E374insAT
c.1117_1121ins6
10 papers
NM_005359.6
p.V370D
c.1109T>A
1 paper
NM_005359.6
p.V370A
c.1109T>C
1 paper
NM_005359.6
p.V370G
c.1109T>G
2 papers
NM_005359.6
p.V370_R372delFs
c.1110_1114del5
2 papers
NM_005359.6
p.T373I
c.1118C>T
2 papers
NM_005359.6
p.V370I
c.1108G>A
1 paper
NM_005359.6
p.V370L
c.1108G>C
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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."