Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7
Variant:p.K316E

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.K316E
c.946A>G
Surrounding Variants
1 paper
NM_005904.4
p.I317I
c.951C>T
1 paper
NM_005904.4
p.C319Y
c.956G>A
2 papers
NM_005904.4
p.K312E
c.934A>G
3 papers
NM_005904.4
p.G320V
c.959G>T
1 paper
NM_005904.4
p.Q311R
c.932A>G
1 paper
NM_005904.4
p.R325Q
c.974G>A
1 paper
NM_005904.4
p.K306E
c.916A>G
1 paper
NM_005904.4
p.D304G
c.911A>G
2 papers
NM_005904.4
p.L298L
c.894C>T
1 paper
NM_005904.4
p.R335Fs
c.1003delinsGAFs
1 paper
NM_005904.4
p.Q292P
c.875A>C
1 paper
NM_005904.4
p.L290P
c.869T>C
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