Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.G365C

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
2 papers
NM_005359.6
p.G365C
c.1093G>T
Surrounding Variants
5 papers
NM_005359.6
p.G365S
c.1093G>A
2 papers
NM_005359.6
p.G365R
c.1093G>C
1 paper
NM_005359.6
p.G365_N369delins
c.1093_1106delinsTC
14 papers
NM_005359.6
p.G365D
c.1094G>A
1 paper
NM_005359.6
p.G365A
c.1094G>C
2 papers
NM_005359.6
p.G365V
c.1094G>T
2 papers
NM_005359.6
p.L364*
c.1091T>A
3 papers
NM_005359.6
p.L364S
c.1091T>C
8 papers
NM_005359.6
p.L364W
c.1091T>G
2 papers
NM_005359.6
p.G365insFs
c.1093_1094insG
1 paper
NM_005359.6
p.Q366_H371del0
c.1098_1112del15
1 paper
NM_005359.6
p.L364delins
c.1091_1092delinsAC
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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."