Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Y322*

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.Y322*
c.966T>A
Surrounding Variants
2 papers
NM_005359.6
p.Y322*
c.966T>G
1 paper
NM_005359.6
p.Y322F
c.965A>T
1 paper
NM_005359.6
p.W323fs
c.967_968fs
8 papers
NM_005359.6
p.W323*
c.968G>A
1 paper
NM_005359.6
p.W323L
c.968G>T
1 paper
NM_005359.6
p.Y322N
c.964T>A
1 paper
NM_005359.6
p.Y322delFs
c.965delA
7 papers
NM_005359.6
p.W323*
c.969G>A
1 paper
NM_005359.6
p.E321E
c.963G>A
1 paper
NM_005359.6
p.E321_W323del0
c.963_968del6
6 papers
NM_005359.6
p.C324R
c.970T>C
3 papers
NM_005359.6
p.C324delFs
c.971delG
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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."