Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.G529S

SMO

1,034 papers

RefSeq Summary

The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins afte...

Pfam Domains

Fzaa 70–178UCSCFz domain
Frizzledaa 221–552UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

smoothened, frizzled class receptor

HGNC Previous Symbol

SMOH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005631.5
p.G529S
c.1585G>A
Surrounding Variants
1 paper
NM_005631.5
p.G529C
c.1585G>T
2 papers
NM_005631.5
p.G529V
c.1586G>T
1 paper
NM_005631.5
p.T528A
c.1582A>G
1 paper
NM_005631.5
p.A531T
c.1591G>A
1 paper
NM_005631.5
p.M525I
c.1575G>A
1 paper
NM_005631.5
p.M525I
c.1575G>C
1 paper
NM_005631.5
p.M525I
c.1575G>T
1 paper
NM_005631.5
p.M532I
c.1596G>A
1 paper
NM_005631.5
p.M532I
c.1596G>C
1 paper
NM_005631.5
p.M532I
c.1596G>T
1 paper
NM_005631.5
p.M525L
c.1573A>C
1 paper
NM_005631.5
p.M525L
c.1573A>T
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