Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.R562Q

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
16 papers
NM_005631.5
p.R562Q
c.1685G>A
Surrounding Variants
1 paper
NM_005631.5
p.R562W
c.1684C>T
1 paper
NM_005631.5
p.K564Q
c.1690A>C
1 paper
NM_005631.5
p.K564R
c.1691A>G
1 paper
NM_005631.5
p.P560R
c.1679C>G
1 paper
NM_005631.5
p.S566N
c.1697G>A
1 paper
NM_005631.5
p.D558N
c.1672G>A
2 papers
NM_005631.5
p.K567K
c.1701G>A
1 paper
NM_005631.5
p.M568L
c.1702A>T
1 paper
NM_005631.5
p.G554W
c.1660G>T
1 paper
NM_005631.5
p.A572_F573insFs
c.1716_1717insG
6 papers
NM_005631.5
p.S574S
c.1722T>C
18 papers
NM_005631.5
p.K575M
c.1724A>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."