Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.R113Q

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
4 papers
NM_005631.5
p.R113Q
c.338G>A
Surrounding Variants
1 paper
NM_005631.5
p.A115insFs
c.344dupC
1 paper
NM_005631.5
p.A115fs
c.343_344fs
1 paper
NM_005631.5
p.R117delFs
c.349delC
1 paper
NM_005631.5
p.G111Splc
c.332-2A>C
1 paper
NM_005631.5
p.P116A
c.346C>G
1 paper
NM_005631.5
p.R117fs
c.349_350fs
1 paper
NM_005631.5
p.R117G
c.349C>G
1 paper
NM_005631.5
p.R117C
c.349C>T
2 papers
NM_005631.5
p.R117H
c.350G>A
1 paper
NM_005631.5
p.R117P
c.350G>C
1 paper
NM_005631.5
p.C118F
c.353G>T
1 paper
NM_005631.5
p.V121insFs
c.361_362ins4
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