Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A458V

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
4 papers
NM_005359.6
p.A458V
c.1373C>T
Surrounding Variants
1 paper
NM_005359.6
p.A457A
c.1371A>G
1 paper
NM_005359.6
p.A459fs
c.1375_1376fs
1 paper
NM_005359.6
p.A459D
c.1376C>A
1 paper
NM_005359.6
p.A457V
c.1370C>T
1 paper
NM_005359.6
p.A457S
c.1369G>T
2 papers
NM_005359.6
p.A460T
c.1378G>A
1 paper
NM_005359.6
p.A460fs
c.1378_1379fs
2 papers
NM_005359.6
p.A460S
c.1378G>T
2 papers
NM_005359.6
p.A460fs
c.1378_1379fs
1 paper
NM_005359.6
p.A457_V465del9
c.1369_1394del27
1 paper
NM_005359.6
p.A456V
c.1367C>T
1 paper
NM_005359.6
p.A456P
c.1366G>C
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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."