Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C71S

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.C71S
c.211T>A
Surrounding Variants
3 papers
NM_005359.6
p.C71R
c.211T>C
1 paper
NM_005359.6
p.C71fs
c.211_212fs
3 papers
NM_005359.6
p.C71Y
c.212G>A
1 paper
NM_005359.6
p.C71_V72insFs
c.213_214insT
1 paper
NM_005359.6
p.C71_T73delFs
c.211_217del7
1 paper
NM_005359.6
p.C71W
c.213T>G
1 paper
NM_005359.6
p.K70*
c.208A>T
1 paper
NM_005359.6
p.V72fs
c.214_215fs
1 paper
NM_005359.6
p.V72D
c.215T>A
2 papers
NM_005359.6
p.S69N
c.206G>A
1 paper
NM_005359.6
p.S69R
c.205A>C
1 paper
NM_005359.6
p.T73I
c.218C>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."