Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q249H

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.Q249H
c.747G>T
Surrounding Variants
2 papers
NM_005359.6
p.Q249H
c.747G>C
4 papers
NM_005359.6
p.Q249P
c.746A>C
2 papers
NM_005359.6
p.Q249R
c.746A>G
1 paper
NM_005359.6
p.Q249delins
c.746_747delinsCC
2 papers
NM_005359.6
p.Q250*
c.748C>T
3 papers
NM_005359.6
p.Q249*
c.745C>T
1 paper
NM_005359.6
p.N251insFs
c.752dupA
1 paper
NM_005359.6
p.Q250H
c.750G>T
1 paper
NM_005359.6
p.N251fs
c.751_752fs
1 paper
NM_005359.6
p.N251D
c.751A>G
1 paper
NM_005359.6
p.N251Y
c.751A>T
1 paper
NM_005359.6
p.N251fs
c.751_752fs
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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."