Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C363Y

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.C363Y
c.1088G>A
Surrounding Variants
3 papers
NM_005359.6
p.C363S
c.1088G>C
8 papers
NM_005359.6
p.C363F
c.1088G>T
1 paper
NM_005359.6
p.C363delFs
c.1089delT
4 papers
NM_005359.6
p.C363S
c.1087T>A
6 papers
NM_005359.6
p.C363R
c.1087T>C
3 papers
NM_005359.6
p.C363W
c.1089T>G
1 paper
NM_005359.6
p.C363G
c.1087T>G
7 papers
NM_005359.6
p.C363_L364insA
c.1087_1091ins3
7 papers
NM_005359.6
p.F362F
c.1086T>C
1 paper
NM_005359.6
p.L364V
c.1090T>G
1 paper
NM_005359.6
p.C363_T373del11
c.1087_1118del33
2 papers
NM_005359.6
p.L364*
c.1091T>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."