Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E390K

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
4 papers
NM_005359.6
p.E390K
c.1168G>A
Surrounding Variants
10 papers
NM_005359.6
p.E390*
c.1168G>T
1 paper
NM_005359.6
p.E390_C391delFs
c.1170_1171delAT
2 papers
NM_005359.6
p.Q388R
c.1163A>G
1 paper
NM_005359.6
p.C391*
c.1173T>A
1 paper
NM_005359.6
p.K392E
c.1174A>G
1 paper
NM_005359.6
p.Q388K
c.1162C>A
1 paper
NM_005359.6
p.Q388fs
c.1162_1163fs
11 papers
NM_005359.6
p.Q388*
c.1162C>T
2 papers
NM_005359.6
p.K392R
c.1175A>G
1 paper
NM_005359.6
p.K392I
c.1175A>T
1 paper
NM_005359.6
p.K392K
c.1176A>G
1 paper
NM_005359.6
p.G393D
c.1178G>A
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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."