Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.F332L

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.F332L
c.996T>A
Surrounding Variants
1 paper
NM_005631.5
p.F332L
c.996T>G
1 paper
NM_005631.5
p.F332L
c.994T>C
1 paper
NM_005631.5
p.W331R
c.991T>A
1 paper
NM_005631.5
p.W331R
c.991T>C
2 papers
NM_005631.5
p.V334G
c.1001T>G
1 paper
NM_005631.5
p.L335Fs
c.1003delinsGAFs
1 paper
NM_005631.5
p.T336A
c.1006A>G
4 papers
NM_005631.5
p.T336I
c.1007C>T
1 paper
NM_005631.5
p.G328D
c.983G>A
1 paper
NM_005631.5
p.G328V
c.983G>T
1 paper
NM_005631.5
p.Y337Y
c.1011T>C
1 paper
NM_005631.5
p.A338V
c.1013C>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."