Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H233L

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.H233L
c.698A>T
Surrounding Variants
1 paper
NM_005359.6
p.H233R
c.698A>G
1 paper
NM_005359.6
p.H233insFs
c.697_698insG
2 papers
NM_005359.6
p.H233Y
c.697C>T
2 papers
NM_005359.6
p.H233fs
c.697_698fs
1 paper
NM_005359.6
p.S234R
c.700A>C
1 paper
NM_005359.6
p.S232insFs
c.695_696insT
2 papers
NM_005359.6
p.S232fs
c.694_695fs
1 paper
NM_005359.6
p.S232C
c.694A>T
9 papers
NM_005359.6
p.S232fs
c.694_695fs
1 paper
NM_005359.6
p.S234R
c.702T>A
1 paper
NM_005359.6
p.S234R
c.702T>G
1 paper
NM_005359.6
p.G231G
c.693C>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."