Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.G728R

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.G728R
c.2182G>C
Surrounding Variants
1 paper
NM_005631.5
p.G728R
c.2182G>A
1 paper
NM_005631.5
p.Q727*
c.2179C>T
1 paper
NM_005631.5
p.A729V
c.2186C>T
15 papers
NM_005631.5
p.R726Q
c.2177G>A
2 papers
NM_005631.5
p.W730_P736delFs
c.2188_2207del20
2 papers
NM_005631.5
p.R726*
c.2176C>T
2 papers
NM_005631.5
p.S724_C725insFs
c.2172_2173insC
1 paper
NM_005631.5
p.S724F
c.2171C>T
1 paper
NM_005631.5
p.L732P
c.2195T>C
1 paper
NM_005631.5
p.S734F
c.2201C>T
1 paper
NM_005631.5
p.A718T
c.2152G>A
1 paper
NM_005631.5
p.A718S
c.2152G>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."