Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.P698S

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.P698S
c.2092C>T
Surrounding Variants
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.S699N
c.2096G>A
1 paper
NM_005631.5
p.P696P
c.2088T>A
2 papers
NM_005631.5
p.S699R
c.2097T>A
3 papers
NM_005631.5
p.S699R
c.2097T>G
2 papers
NM_005631.5
p.P694R
c.2081C>G
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.P693S
c.2077C>T
1 paper
NM_005631.5
p.R703*
c.2107C>T
1 paper
NM_005631.5
p.R703R
c.2109A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."