Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A464A

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.A464A
c.1392C>T
Surrounding Variants
1 paper
NM_005359.6
p.V465_I469del5
c.1393_1406del15
3 papers
NM_005359.6
p.V465M
c.1393G>A
11 papers
NM_005359.6
p.V465insFs
c.1394_1395insT
1 paper
NM_005359.6
p.V465V
c.1395G>A
12 papers
NM_005359.6
p.A466fs
c.1396_1397fs
1 paper
NM_005359.6
p.A466G
c.1397C>G
1 paper
NM_005359.6
p.A466V
c.1397C>T
2 papers
NM_005359.6
p.A463T
c.1387G>A
1 paper
NM_005359.6
p.A463P
c.1387G>C
1 paper
NM_005359.6
p.A463delFs
c.1388delC
1 paper
NM_005359.6
p.A463fs
c.1387_1388fs
1 paper
NM_005359.6
p.A466A
c.1398A>G
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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."