Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.H760Y

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
3 papers
NM_005631.5
p.H760Y
c.2278C>T
Surrounding Variants
1 paper
NM_005631.5
p.H760fs
c.2278_2279fs
1 paper
NM_005631.5
p.H760delFs
c.2280delT
1 paper
NM_005631.5
p.A759V
c.2276C>T
1 paper
NM_005631.5
p.G761C
c.2281G>T
1 paper
NM_005631.5
p.R762C
c.2284C>T
1 paper
NM_005631.5
p.R762H
c.2285G>A
2 papers
NM_005631.5
p.R763*
c.2287C>T
2 papers
NM_005631.5
p.Q764delFs
c.2291_2292delAG
1 paper
NM_005631.5
p.Q764fs
c.2290_2291fs
1 paper
NM_005631.5
p.P753P
c.2259G>A
1 paper
NM_005631.5
p.G767A
c.2300G>C
1 paper
NM_005631.5
p.S751I
c.2252G>T
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