Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D494fs

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.D494fs
c.1480_1481fs
Surrounding Variants
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
2 papers
NM_005359.6
p.D494Y
c.1480G>T
1 paper
NM_005359.6
p.D494del1
c.1480_1481delGAC
1 paper
NM_005359.6
p.D493insFs
c.1478_1479insT
2 papers
NM_005359.6
p.D493A
c.1478A>C
4 papers
NM_005359.6
p.D493G
c.1478A>G
1 paper
NM_005359.6
p.D493V
c.1478A>T
1 paper
NM_005359.6
p.D494D
c.1482C>T
1 paper
NM_005359.6
p.L495fs
c.1483_1484fs
1 paper
NM_005359.6
p.L495F
c.1483C>T
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