Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.P694delFs

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.P694delFs
c.2081delC
Surrounding Variants
2 papers
NM_005631.5
p.P693S
c.2077C>T
1 paper
NM_005631.5
p.L691F
c.2071C>T
7 papers
NM_005631.5
p.P694fs
c.2080_2081fs
9 papers
NM_005631.5
p.P694fs
c.2080_2081fs
2 papers
NM_005631.5
p.P694R
c.2081C>G
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.P688S
c.2062C>T
1 paper
NM_005631.5
p.P696P
c.2088T>A
2 papers
NM_005631.5
p.P687Q
c.2060C>A
2 papers
NM_005631.5
p.P687L
c.2060C>T
1 paper
NM_005631.5
p.P698S
c.2092C>T
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