Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L229delFs

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.L229delFs
c.685delC
Surrounding Variants
2 papers
NM_005359.6
p.L229fs
c.685_686fs
2 papers
NM_005359.6
p.L229R
c.686T>G
10 papers
NM_005359.6
p.G231insFs
c.692dupG
5 papers
NM_005359.6
p.G231delFs
c.692delG
2 papers
NM_005359.6
p.G230R
c.688G>A
3 papers
NM_005359.6
p.G230R
c.688G>C
1 paper
NM_005359.6
p.S227G
c.679A>G
2 papers
NM_005359.6
p.G230E
c.689G>A
1 paper
NM_005359.6
p.G230V
c.689G>T
1 paper
NM_005359.6
p.A226A
c.678C>A
1 paper
NM_005359.6
p.A226A
c.678C>T
4 papers
NM_005359.6
p.A226V
c.677C>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."