Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.K113fs

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.K113fs
c.337_338fs
Surrounding Variants
2 papers
NM_005359.6
p.K113*
c.337A>T
7 papers
NM_005359.6
p.K113R
c.338A>G
1 paper
NM_005359.6
p.K113delFs
c.339delA
1 paper
NM_005359.6
p.V112fs
c.334_335fs
2 papers
NM_005359.6
p.Y114N
c.340T>A
1 paper
NM_005359.6
p.Y114fs
c.340_341fs
1 paper
NM_005359.6
p.H111H
c.333T>C
1 paper
NM_005359.6
p.H111L
c.332A>T
1 paper
NM_005359.6
p.Y114*
c.342T>A
1 paper
NM_005359.6
p.Y114Y
c.342T>C
1 paper
NM_005359.6
p.Y114*
c.342T>G
1 paper
NM_005359.6
p.H111fs
c.331_332fs
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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."