Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.D473H

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
26 papers
NM_005631.5
p.D473H
c.1417G>C
Surrounding Variants
7 papers
NM_005631.5
p.D473N
c.1417G>A
8 papers
NM_005631.5
p.D473Y
c.1417G>T
11 papers
NM_005631.5
p.D473G
c.1418A>G
1 paper
NM_005631.5
p.D473V
c.1418A>T
2 papers
NM_005631.5
p.Y472Y
c.1416C>T
1 paper
NM_005631.5
p.D473E
c.1419C>A
1 paper
NM_005631.5
p.D473E
c.1419C>G
1 paper
NM_005631.5
p.Y472N
c.1414T>A
1 paper
NM_005631.5
p.H470L
c.1409A>T
1 paper
NM_005631.5
p.N476S
c.1427A>G
1 paper
NM_005631.5
p.N476K
c.1428C>A
1 paper
NM_005631.5
p.N476K
c.1428C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."