Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H528_H530del3

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.H528_H530del3
c.1582_1589del9
Surrounding Variants
1 paper
NM_005359.6
p.H528delFs
c.1582_1583delCA
3 papers
NM_005359.6
p.H528fs
c.1582_1583fs
1 paper
NM_005359.6
p.H528D
c.1582C>G
4 papers
NM_005359.6
p.H528Y
c.1582C>T
1 paper
NM_005359.6
p.I527_H528delFs
c.1581_1584del4
1 paper
NM_005359.6
p.I527fs
c.1579_1580fs
3 papers
NM_005359.6
p.H528R
c.1583A>G
2 papers
NM_005359.6
p.I527V
c.1579A>G
1 paper
NM_005359.6
p.H528L
c.1583A>T
1 paper
NM_005359.6
p.H528_L533delFs
c.1584_1597del14
1 paper
NM_005359.6
p.I527delFs
c.1580_1581delTT
1 paper
NM_005359.6
p.I527_L533delFs
c.1579_1597del19
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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."