Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S12N

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
11 papers
NM_005359.6
p.S12N
c.35G>A
Surrounding Variants
3 papers
NM_005359.6
p.S12T
c.35G>C
9 papers
NM_005359.6
p.S12I
c.35G>T
1 paper
NM_005359.6
p.S12G
c.34A>G
1 paper
NM_005359.6
p.S12R
c.36T>A
12 papers
NM_005359.6
p.N13S
c.38A>G
1 paper
NM_005359.6
p.N13K
c.39T>A
1 paper
NM_005359.6
p.D14G
c.41A>G
1 paper
NM_005359.6
p.D14V
c.41A>T
3 papers
NM_005359.6
p.P10L
c.29C>T
1 paper
NM_005359.6
p.P10A
c.28C>G
2 papers
NM_005359.6
p.A15insFs
c.45dupC
1 paper
NM_005359.6
p.A15fs
c.43_44fs
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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."