Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H528R

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.H528R
c.1583A>G
Surrounding Variants
1 paper
NM_005359.6
p.H528L
c.1583A>T
1 paper
NM_005359.6
p.H528_L533delFs
c.1584_1597del14
3 papers
NM_005359.6
p.H528fs
c.1582_1583fs
1 paper
NM_005359.6
p.H528_L529insFs
c.1584_1585insT
1 paper
NM_005359.6
p.H528D
c.1582C>G
4 papers
NM_005359.6
p.H528Y
c.1582C>T
8 papers
NM_005359.6
p.L529fs
c.1585_1586fs
2 papers
NM_005359.6
p.L529insFs
c.1586_1587dupTA
1 paper
NM_005359.6
p.H528delFs
c.1582_1583delCA
1 paper
NM_005359.6
p.H528_H530del3
c.1582_1589del9
2 papers
NM_005359.6
p.L529fs
c.1585_1586fs
1 paper
NM_005359.6
p.L529S
c.1586T>C
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