Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q256L

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
14 papers
NM_005359.6
p.Q256L
c.767A>T
Surrounding Variants
1 paper
NM_005359.6
p.Q256R
c.767A>G
1 paper
NM_005359.6
p.Q256K
c.766C>A
1 paper
NM_005359.6
p.Q256_P257insFs
c.768_769insAG
13 papers
NM_005359.6
p.Q256*
c.766C>T
1 paper
NM_005359.6
p.Q256fs
c.766_767fs
1 paper
NM_005359.6
p.Q256_H262delFs
c.767_786del20
1 paper
NM_005359.6
p.P257Q
c.770C>A
1 paper
NM_005359.6
p.P257insFs
c.771dupA
1 paper
NM_005359.6
p.P257R
c.770C>G
3 papers
NM_005359.6
p.G255A
c.764G>C
1 paper
NM_005359.6
p.A258delFs
c.772delG
1 paper
NM_005359.6
p.G255S
c.763G>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."