Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.G238_A239delFs

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.G238_A239delFs
c.714_715delGG
Surrounding Variants
4 papers
NM_005631.5
p.G238R
c.712G>A
3 papers
NM_005631.5
p.G238R
c.712G>C
1 paper
NM_005631.5
p.G238E
c.713G>A
1 paper
NM_005631.5
p.A239A
c.717C>T
6 papers
NM_005631.5
p.A235V
c.704C>T
2 papers
NM_005631.5
p.V240I
c.718G>A
1 paper
NM_005631.5
p.A235T
c.703G>A
1 paper
NM_005631.5
p.V240D
c.719T>A
1 paper
NM_005631.5
p.I234M
c.702C>G
9 papers
NM_005631.5
p.T241M
c.722C>T
1 paper
NM_005631.5
p.Y233Y
c.699C>T
1 paper
NM_005631.5
p.G242S
c.724G>A
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