Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.G358E

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.G358E
c.1073G>A
Surrounding Variants
2 papers
NM_005359.6
p.G358insFs
c.1074dupA
1 paper
NM_005359.6
p.G358V
c.1073G>T
1 paper
NM_005359.6
p.G358G
c.1074A>G
2 papers
NM_005359.6
p.G358R
c.1072G>A
2 papers
NM_005359.6
p.G358R
c.1072G>C
1 paper
NM_005359.6
p.G358fs
c.1072_1073fs
9 papers
NM_005359.6
p.G358*
c.1072G>T
1 paper
NM_005359.6
p.G359fs
c.1075_1076fs
1 paper
NM_005359.6
p.G358del1
c.1072_1073delGGA
1 paper
NM_005359.6
p.G358_G359del0
c.1072_1077del6
2 papers
NM_005359.6
p.S357F
c.1070C>T
1 paper
NM_005359.6
p.G359A
c.1076G>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."