Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R380T

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
1 paper
NM_005359.6
p.R380T
c.1139G>C
Surrounding Variants
11 papers
NM_005359.6
p.R380K
c.1139G>A
2 papers
NM_005359.6
p.R380G
c.1138A>G
6 papers
NM_005359.6
p.R380W
c.1138A>T
3 papers
NM_005359.6
p.R380Splc
c.1139+1G>A
3 papers
NM_005359.6
p.R380S
c.1140G>C
3 papers
NM_005359.6
p.R380S
c.1140G>T
1 paper
NM_005359.6
p.R380Splc
c.1139+2T>C
1 paper
NM_005359.6
p.R380Splc
c.1139+2T>G
4 papers
NM_005359.6
p.R380Splc
c.1139+3A>G
2 papers
NM_005359.6
p.A379T
c.1135G>A
1 paper
NM_005359.6
p.R378R
c.1134A>G
1 paper
NM_005359.6
p.R378fs
c.1132_1133fs
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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."