Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.H231Y

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.H231Y
c.691C>T
Surrounding Variants
4 papers
NM_005631.5
p.H231R
c.692A>G
1 paper
NM_005631.5
p.M230I
c.690G>A
1 paper
NM_005631.5
p.H231Q
c.693C>A
1 paper
NM_005631.5
p.H231Q
c.693C>G
1 paper
NM_005631.5
p.Y233Y
c.699C>T
1 paper
NM_005631.5
p.Q228*
c.682C>T
1 paper
NM_005631.5
p.I234M
c.702C>G
1 paper
NM_005631.5
p.A235T
c.703G>A
6 papers
NM_005631.5
p.A235V
c.704C>T
1 paper
NM_005631.5
p.E224A
c.671A>C
1 paper
NM_005631.5
p.G238_A239delFs
c.714_715delGG
4 papers
NM_005631.5
p.G238R
c.712G>A
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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."