Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A258S

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.A258S
c.772G>T
Surrounding Variants
1 paper
NM_005359.6
p.A258T
c.772G>A
1 paper
NM_005359.6
p.A258delFs
c.772delG
1 paper
NM_005359.6
p.A258V
c.773C>T
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.T259fs
c.775_776fs
1 paper
NM_005359.6
p.T259A
c.775A>G
3 papers
NM_005359.6
p.T259delFs
c.776_777delCT
1 paper
NM_005359.6
p.T259I
c.776C>T
1 paper
NM_005359.6
p.Q256R
c.767A>G
14 papers
NM_005359.6
p.Q256L
c.767A>T
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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."