Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D355E

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
9 papers
NM_005359.6
p.D355E
c.1065C>A
Surrounding Variants
9 papers
NM_005359.6
p.D355E
c.1065C>G
2 papers
NM_005359.6
p.D355insFs
c.1064_1065insT
3 papers
NM_005359.6
p.D355A
c.1064A>C
16 papers
NM_005359.6
p.D355G
c.1064A>G
12 papers
NM_005359.6
p.D355V
c.1064A>T
1 paper
NM_005359.6
p.D355delFs
c.1065delC
3 papers
NM_005359.6
p.P356T
c.1066C>A
1 paper
NM_005359.6
p.P356A
c.1066C>G
12 papers
NM_005359.6
p.P356S
c.1066C>T
3 papers
NM_005359.6
p.P356H
c.1067C>A
1 paper
NM_005359.6
p.S357_C363ins2
c.1070_1087dup18
10 papers
NM_005359.6
p.P356R
c.1067C>G
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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."