Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.F166I

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.F166I
c.496T>A
Surrounding Variants
1 paper
NM_005631.5
p.D165G
c.494A>G
1 paper
NM_005631.5
p.P164A
c.490C>G
1 paper
NM_005631.5
p.R168C
c.502C>T
10 papers
NM_005631.5
p.R168H
c.503G>A
1 paper
NM_005631.5
p.G162D
c.485G>A
1 paper
NM_005631.5
p.R161Q
c.482G>A
1 paper
NM_005631.5
p.R161W
c.481C>T
2 papers
NM_005631.5
p.P171delFs
c.513delT
1 paper
NM_005631.5
p.E160delFs
c.479delA
11 papers
NM_005631.5
p.R173C
c.517C>T
7 papers
NM_005631.5
p.R173H
c.518G>A
1 paper
NM_005631.5
p.E158A
c.473A>C
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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."