Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.K385R

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.K385R
c.1154A>G
Surrounding Variants
1 paper
NM_005359.6
p.K385Q
c.1153A>C
1 paper
NM_005359.6
p.G386delFs
c.1156delG
20 papers
NM_005359.6
p.G386S
c.1156G>A
18 papers
NM_005359.6
p.G386R
c.1156G>C
1 paper
NM_005359.6
p.G386fs
c.1156_1157fs
3 papers
NM_005359.6
p.G386C
c.1156G>T
46 papers
NM_005359.6
p.G386D
c.1157G>A
2 papers
NM_005359.6
p.G384D
c.1151G>A
2 papers
NM_005359.6
p.G386A
c.1157G>C
22 papers
NM_005359.6
p.G386V
c.1157G>T
1 paper
NM_005359.6
p.G384V
c.1151G>T
1 paper
NM_005359.6
p.G384fs
c.1150_1151fs
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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."