Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D493A

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
2 papers
NM_005359.6
p.D493A
c.1478A>C
Surrounding Variants
1 paper
NM_005359.6
p.D493insFs
c.1478_1479insT
4 papers
NM_005359.6
p.D493G
c.1478A>G
1 paper
NM_005359.6
p.D493V
c.1478A>T
13 papers
NM_005359.6
p.D493N
c.1477G>A
16 papers
NM_005359.6
p.D493H
c.1477G>C
1 paper
NM_005359.6
p.D493fs
c.1477_1478fs
4 papers
NM_005359.6
p.D493Y
c.1477G>T
1 paper
NM_005359.6
p.D493_L498delFs
c.1478_1494del17
1 paper
NM_005359.6
p.D494del1
c.1480_1481delGAC
1 paper
NM_005359.6
p.D494N
c.1480G>A
1 paper
NM_005359.6
p.D494insFs
c.1480_1481insC
1 paper
NM_005359.6
p.D494fs
c.1480_1481fs
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