Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.T7M

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
3 papers
NM_005359.6
p.T7M
c.20C>T
Surrounding Variants
1 paper
NM_005359.6
p.T7S
c.19A>T
4 papers
NM_005359.6
p.T7T
c.21G>A
1 paper
NM_005359.6
p.N8insFs
c.23dupA
1 paper
NM_005359.6
p.N8delFs
c.23delA
1 paper
NM_005359.6
p.T9_S12del4
c.25_35del12
1 paper
NM_005359.6
p.I6S
c.17T>G
3 papers
NM_005359.6
p.S5C
c.14C>G
1 paper
NM_005359.6
p.S5F
c.14C>T
1 paper
NM_005359.6
p.T9I
c.26C>T
1 paper
NM_005359.6
p.P10A
c.28C>G
23 papers
NM_005359.6
p.M4I
c.12G>A
30 papers
NM_005359.6
p.M4I
c.12G>C
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."