Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C324insFs

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.C324insFs
c.971_972insAT
Surrounding Variants
8 papers
NM_005359.6
p.C324Y
c.971G>A
1 paper
NM_005359.6
p.S325delFs
c.973delT
3 papers
NM_005359.6
p.C324*
c.972T>A
6 papers
NM_005359.6
p.C324R
c.970T>C
3 papers
NM_005359.6
p.C324delFs
c.971delG
1 paper
NM_005359.6
p.C324fs
c.970_971fs
1 paper
NM_005359.6
p.C324_D332delFs
c.972_994del23
7 papers
NM_005359.6
p.W323*
c.969G>A
3 papers
NM_005359.6
p.S325P
c.973T>C
1 paper
NM_005359.6
p.S325fs
c.973_974fs
1 paper
NM_005359.6
p.S325delFs
c.974delC
1 paper
NM_005359.6
p.S325Y
c.974C>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."