Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S357P

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
5 papers
NM_005359.6
p.S357P
c.1069T>C
Surrounding Variants
2 papers
NM_005359.6
p.S357fs
c.1069_1070fs
2 papers
NM_005359.6
p.S357F
c.1070C>T
1 paper
NM_005359.6
p.S357delFs
c.1069_1070delTC
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
40 papers
NM_005359.6
p.P356L
c.1067C>T
1 paper
NM_005359.6
p.P356delins
c.1067_1068delinsAGAAG
1 paper
NM_005359.6
p.P356delins
c.1067_1068delinsTC
1 paper
NM_005359.6
p.P356_S357delFs
c.1068_1069delTT
1 paper
NM_005359.6
p.G358del1
c.1072_1073delGGA
1 paper
NM_005359.6
p.G358_G359del0
c.1072_1077del6
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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."