Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E41G

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.E41G
c.122A>G
Surrounding Variants
1 paper
NM_005359.6
p.E41A
c.122A>C
1 paper
NM_005359.6
p.E41*
c.121G>T
2 papers
NM_005359.6
p.S42G
c.124A>G
1 paper
NM_005359.6
p.S42_L43delFs
c.125_128del4
1 paper
NM_005359.6
p.S42Fs
c.125delinsTTFs
1 paper
NM_005359.6
p.L43delFs
c.128delT
1 paper
NM_005359.6
p.I40F
c.118A>T
1 paper
NM_005359.6
p.I40fs
c.118_119fs
1 paper
NM_005359.6
p.S42S
c.126T>C
2 papers
NM_005359.6
p.L43M
c.127T>A
1 paper
NM_005359.6
p.L43L
c.127T>C
2 papers
NM_005359.6
p.L43V
c.127T>G
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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."