Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.S387N

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
2 papers
NM_005631.5
p.S387N
c.1160G>A
Surrounding Variants
1 paper
NM_005631.5
p.S387C
c.1159A>T
1 paper
NM_005631.5
p.G388W
c.1162G>T
2 papers
NM_005631.5
p.V386A
c.1157T>C
13 papers
NM_005631.5
p.G388G
c.1164G>C
1 paper
NM_005631.5
p.I389V
c.1165A>G
1 paper
NM_005631.5
p.S385C
c.1154C>G
1 paper
NM_005631.5
p.C390R
c.1168T>C
2 papers
NM_005631.5
p.D384N
c.1150G>A
1 paper
NM_005631.5
p.V392M
c.1174G>A
1 paper
NM_005631.5
p.V392L
c.1174G>T
1 paper
NM_005631.5
p.D382V
c.1145A>T
1 paper
NM_005631.5
p.V392G
c.1175T>G
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