Varaico: Literature-Extracted Genetic Variants

Gene:SMO

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
1–12 of 907 variants
118 papers
NM_005631.5
p.L412F
c.1234C>T
118 papers
NM_005631.5
p.W535L
c.1604G>T
26 papers
NM_005631.5
p.D473H
c.1417G>C
21 papers
NM_005631.5
p.V321M
c.961G>A
20 papers
NM_005631.5
p.T640A
c.1918A>G
18 papers
NM_005631.5
p.T179M
c.536C>T
18 papers
NM_005631.5
p.R199W
c.595C>T
18 papers
NM_005631.5
p.K575M
c.1724A>T
16 papers
NM_005631.5
p.R562Q
c.1685G>A
15 papers
NM_005631.5
p.R726Q
c.2177G>A
14 papers
NM_005631.5
p.V404M
c.1210G>A
14 papers
NM_005631.5
p.A459V
c.1376C>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."