Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7
Variant:p.V263M

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.V263M
c.787G>A
Surrounding Variants
2 papers
NM_005904.4
p.W267*
c.800G>A
1 paper
NM_005904.4
p.T271M
c.812C>T
1 paper
NM_005904.4
p.V273M
c.817G>A
2 papers
NM_005904.4
p.S249A
c.745T>G
1 paper
NM_005904.4
p.D248A
c.743A>C
1 paper
NM_005904.4
p.Q280E
c.838C>G
1 paper
NM_005904.4
p.L290P
c.869T>C
1 paper
NM_005904.4
p.Q292P
c.875A>C
2 papers
NM_005904.4
p.L298L
c.894C>T
1 paper
NM_005904.4
p.D304G
c.911A>G
1 paper
NM_005904.4
p.K306E
c.916A>G
1 paper
NM_005904.4
p.Q311R
c.932A>G
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