Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.I58_T59delFs

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.I58_T59delFs
c.172_175del4
Surrounding Variants
2 papers
NM_005359.6
p.L57*
c.170T>A
4 papers
NM_005359.6
p.L57S
c.170T>C
2 papers
NM_005359.6
p.L57*
c.170T>G
1 paper
NM_005359.6
p.L57fs
c.169_170fs
1 paper
NM_005359.6
p.I58fs
c.172_173fs
1 paper
NM_005359.6
p.L57_G65del9
c.169_194del27
1 paper
NM_005359.6
p.S56Y
c.167C>A
1 paper
NM_005359.6
p.L57delFs
c.170delT
1 paper
NM_005359.6
p.T59delFs
c.175delA
1 paper
NM_005359.6
p.T59P
c.175A>C
1 paper
NM_005359.6
p.T59A
c.175A>G
1 paper
NM_005359.6
p.T59S
c.175A>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."