Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E321_W323del0

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.E321_W323del0
c.963_968del6
Surrounding Variants
3 papers
NM_005359.6
p.E321K
c.961G>A
1 paper
NM_005359.6
p.E321E
c.963G>A
1 paper
NM_005359.6
p.E321insFs
c.962_963insA
3 papers
NM_005359.6
p.E321*
c.961G>T
1 paper
NM_005359.6
p.Y322N
c.964T>A
1 paper
NM_005359.6
p.P320P
c.960T>G
1 paper
NM_005359.6
p.Y322delFs
c.965delA
1 paper
NM_005359.6
p.E321_W323del3
c.961_968del9
1 paper
NM_005359.6
p.Y322F
c.965A>T
2 papers
NM_005359.6
p.P320R
c.959C>G
2 papers
NM_005359.6
p.Y322*
c.966T>A
2 papers
NM_005359.6
p.Y322*
c.966T>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."