Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R361H

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
277 papers
NM_005359.6
p.R361H
c.1082G>A
Surrounding Variants
8 papers
NM_005359.6
p.R361P
c.1082G>C
6 papers
NM_005359.6
p.R361L
c.1082G>T
27 papers
NM_005359.6
p.R361S
c.1081C>A
1 paper
NM_005359.6
p.R361_F362insGGA
c.1081_1085ins9
1 paper
NM_005359.6
p.R361_F362ins4
c.1081_1085ins12
22 papers
NM_005359.6
p.R361G
c.1081C>G
211 papers
NM_005359.6
p.R361C
c.1081C>T
1 paper
NM_005359.6
p.R361R
c.1083C>T
1 paper
NM_005359.6
p.R361fs
c.1081_1082fs
1 paper
NM_005359.6
p.F362fs
c.1084_1085fs
1 paper
NM_005359.6
p.R361delFs
c.1081delC
1 paper
NM_005359.6
p.D360V
c.1079A>T
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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."