Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.K45R

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.K45R
c.134A>G
Surrounding Variants
2 papers
NM_005359.6
p.K45E
c.133A>G
1 paper
NM_005359.6
p.K45K
c.135G>A
3 papers
NM_005359.6
p.K45N
c.135G>C
3 papers
NM_005359.6
p.K45N
c.135G>T
1 paper
NM_005359.6
p.V44V
c.132A>G
1 paper
NM_005359.6
p.K46E
c.136A>G
2 papers
NM_005359.6
p.K46*
c.136A>T
1 paper
NM_005359.6
p.K46fs
c.136_137fs
1 paper
NM_005359.6
p.K46T
c.137A>C
1 paper
NM_005359.6
p.V44G
c.131T>G
1 paper
NM_005359.6
p.K45insFs
c.134dupA
1 paper
NM_005359.6
p.V44ins4
c.131_132ins12
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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."