Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.N64Y

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.N64Y
c.190A>T
Surrounding Variants
1 paper
NM_005359.6
p.T63T
c.189A>T
1 paper
NM_005359.6
p.T63I
c.188C>T
1 paper
NM_005359.6
p.N64_S69delFs
c.190_205del16
1 paper
NM_005359.6
p.T63_A66del0
c.189_197del9
1 paper
NM_005359.6
p.G65R
c.193G>A
1 paper
NM_005359.6
p.G65R
c.193G>C
1 paper
NM_005359.6
p.G65A
c.194G>C
12 papers
NM_005359.6
p.G65V
c.194G>T
1 paper
NM_005359.6
p.G65_C71delFs
c.195_211del17
1 paper
NM_005359.6
p.G65G
c.195A>C
4 papers
NM_005359.6
p.I61I
c.183A>C
3 papers
NM_005359.6
p.I61I
c.183A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."