Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C16C

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.C16C
c.48T>C
Surrounding Variants
1 paper
NM_005359.6
p.L17M
c.49C>A
1 paper
NM_005359.6
p.C16ins1
c.46_47insTGC
3 papers
NM_005359.6
p.A15_C16insFs
c.45_46insT
1 paper
NM_005359.6
p.A15A
c.45C>T
1 paper
NM_005359.6
p.L17_S18insFs
c.51_52insA
2 papers
NM_005359.6
p.A15insFs
c.45dupC
1 paper
NM_005359.6
p.A15fs
c.43_44fs
1 paper
NM_005359.6
p.S18R
c.54C>A
1 paper
NM_005359.6
p.D14G
c.41A>G
1 paper
NM_005359.6
p.D14V
c.41A>T
1 paper
NM_005359.6
p.I19_S22del0
c.57_65del9
1 paper
NM_005359.6
p.N13K
c.39T>A
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."