Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P522L

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.P522L
c.1565C>T
Surrounding Variants
1 paper
NM_005359.6
p.P522fs
c.1564_1565fs
1 paper
NM_005359.6
p.P522A
c.1564C>G
2 papers
NM_005359.6
p.P522fs
c.1564_1565fs
2 papers
NM_005359.6
p.P522delFs
c.1565delC
1 paper
NM_005359.6
p.P522delFs
c.1564_1565delCC
3 papers
NM_005359.6
p.C523R
c.1567T>C
4 papers
NM_005359.6
p.T521I
c.1562C>T
2 papers
NM_005359.6
p.C523Y
c.1568G>A
1 paper
NM_005359.6
p.C523F
c.1568G>T
1 paper
NM_005359.6
p.T521P
c.1561A>C
2 papers
NM_005359.6
p.T521A
c.1561A>G
1 paper
NM_005359.6
p.T521S
c.1561A>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."