Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L43S

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
9 papers
NM_005359.6
p.L43S
c.128T>C
Surrounding Variants
1 paper
NM_005359.6
p.L43delFs
c.129delG
3 papers
NM_005359.6
p.L43F
c.129G>C
3 papers
NM_005359.6
p.L43F
c.129G>T
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
1 paper
NM_005359.6
p.L43fs
c.127_128fs
1 paper
NM_005359.6
p.V44I
c.130G>A
1 paper
NM_005359.6
p.S42S
c.126T>C
1 paper
NM_005359.6
p.S42Fs
c.125delinsTTFs
1 paper
NM_005359.6
p.L43delFs
c.128delT
1 paper
NM_005359.6
p.V44G
c.131T>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."