Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A487V

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.A487V
c.1460C>T
Surrounding Variants
1 paper
NM_005359.6
p.A487A
c.1461T>A
1 paper
NM_005359.6
p.A486A
c.1458T>C
3 papers
NM_005359.6
p.A488V
c.1463C>T
1 paper
NM_005359.6
p.A486fs
c.1456_1457fs
1 paper
NM_005359.6
p.G489delFs
c.1466delG
1 paper
NM_005359.6
p.A486_V492del7
c.1456_1475del21
2 papers
NM_005359.6
p.S485*
c.1454C>A
2 papers
NM_005359.6
p.S485*
c.1454C>G
1 paper
NM_005359.6
p.S485L
c.1454C>T
1 paper
NM_005359.6
p.G489insFs
c.1466_1467insC
1 paper
NM_005359.6
p.G489V
c.1466G>T
1 paper
NM_005359.6
p.S485fs
c.1453_1454fs
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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."