Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7
Variant:p.R335Fs

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
1 paper
NM_005904.4
p.R335Fs
c.1003delinsGAFs
Surrounding Variants
1 paper
NM_005904.4
p.R325Q
c.974G>A
3 papers
NM_005904.4
p.G320V
c.959G>T
1 paper
NM_001190823.2
p.P162insFs
c.484_485insT
1 paper
NM_001190823.2
p.P162fs
c.484_485fs
1 paper
NM_005904.4
p.C319Y
c.956G>A
1 paper
NM_005904.4
p.D351H
c.1051G>C
1 paper
NM_005904.4
p.I317I
c.951C>T
2 papers
NM_005904.4
p.K316E
c.946A>G
1 paper
NM_005904.4
p.T354M
c.1061C>T
2 papers
NM_005904.4
p.T354T
c.1062G>A
2 papers
NM_005904.4
p.K312E
c.934A>G
1 paper
NM_005904.4
p.Q311R
c.932A>G
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