Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7
Variant:p.S206A

SMAD7

197 papers

RefSeq Summary

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor typ...

Pfam Domains

MH1aa 92–202UCSCMH1 domain
MH1aa 92–202UCSCMH1 domain
MH2aa 259–424UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 7

HGNC Previous Symbols

MADH8; MADH7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005904.4
p.S206A
c.616T>G
Surrounding Variants
1 paper
NM_005904.4
p.P208S
c.622C>T
1 paper
NM_005904.4
p.P208P
c.624C>A
2 papers
NM_005904.4
p.P209fs
c.625_626fs
1 paper
NM_005904.4
p.P209S
c.625C>T
1 paper
NM_005904.4
p.P209insFs
c.625_626insTG
1 paper
NM_005904.4
p.P209insFs
c.626dupC
4 papers
NM_005904.4
p.P209fs
c.625_626fs
5 papers
NM_005904.4
p.P208delFs
c.624delG
1 paper
NM_005904.4
p.P210fs
c.628_629fs
1 paper
NM_005904.4
p.P210fs
c.628_629fs
1 paper
NM_005904.4
p.Y214H
c.640T>C
1 paper
NM_005904.4
p.Y214N
c.640T>A
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