Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V137V

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.V137V
c.411A>G
Surrounding Variants
1 paper
NM_005359.6
p.V137A
c.410T>C
1 paper
NM_005359.6
p.S138_P139delFs
c.413_416del4
2 papers
NM_005359.6
p.S138*
c.413C>A
4 papers
NM_005359.6
p.S138*
c.413C>G
2 papers
NM_005359.6
p.S138L
c.413C>T
1 paper
NM_005359.6
p.P139S
c.415C>T
1 paper
NM_005359.6
p.V136insFs
c.407_408insTG
1 paper
NM_005359.6
p.P139L
c.416C>T
1 paper
NM_005359.6
p.V136I
c.406G>A
1 paper
NM_005359.6
p.V136fs
c.406_407fs
1 paper
NM_005359.6
p.V136delFs
c.406_407delGT
1 paper
NM_005359.6
p.R135P
c.404G>C
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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."