Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.P694fs

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
7 papers
NM_005631.5
p.P694fs
c.2080_2081fs
Surrounding Variants
9 papers
NM_005631.5
p.P694fs
c.2080_2081fs
2 papers
NM_005631.5
p.P694R
c.2081C>G
2 papers
NM_005631.5
p.P693S
c.2077C>T
7 papers
NM_005631.5
p.P694delFs
c.2081delC
1 paper
NM_005631.5
p.P696P
c.2088T>A
1 paper
NM_005631.5
p.L691F
c.2071C>T
1 paper
NM_005631.5
p.P698S
c.2092C>T
10 papers
NM_005631.5
p.P698R
c.2093C>G
2 papers
NM_005631.5
p.S699R
c.2095A>C
1 paper
NM_005631.5
p.P689T
c.2065C>A
1 paper
NM_005631.5
p.P689fs
c.2065_2066fs
1 paper
NM_005631.5
p.S699N
c.2096G>A
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