Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S403_V407del5

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.S403_V407del5
c.1207_1220del15
Surrounding Variants
1 paper
NM_005359.6
p.L402L
c.1206T>A
1 paper
NM_005359.6
p.S403_V407del0
c.1208_1219del12
1 paper
NM_005359.6
p.L402H
c.1205T>A
1 paper
NM_005359.6
p.L402insFs
c.1206dupT
1 paper
NM_005359.6
p.L402F
c.1204C>T
1 paper
NM_005359.6
p.S403I
c.1208G>T
1 paper
NM_005359.6
p.S403delFs
c.1209delT
1 paper
NM_005359.6
p.C401*
c.1203C>A
2 papers
NM_005359.6
p.C401Y
c.1202G>A
1 paper
NM_005359.6
p.C401F
c.1202G>T
1 paper
NM_005359.6
p.D404fs
c.1210_1211fs
2 papers
NM_005359.6
p.H405insFs
c.1213dupC
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