Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.T77T

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.T77T
c.231A>T
Surrounding Variants
1 paper
NM_005359.6
p.T77T
c.231A>G
3 papers
NM_005359.6
p.T77A
c.229A>G
1 paper
NM_005359.6
p.L78*
c.233T>A
2 papers
NM_005359.6
p.L78W
c.233T>G
2 papers
NM_005359.6
p.R76R
c.228A>G
2 papers
NM_005359.6
p.D79N
c.235G>A
1 paper
NM_005359.6
p.R76I
c.227G>T
1 paper
NM_005359.6
p.D79Y
c.235G>T
1 paper
NM_005359.6
p.R76R
c.226A>C
1 paper
NM_005359.6
p.D79G
c.236A>G
2 papers
NM_005359.6
p.R76*
c.226A>T
1 paper
NM_005359.6
p.D79delFs
c.237delT
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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."