Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.Q216R

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.Q216R
c.647A>G
Surrounding Variants
1 paper
NM_005631.5
p.C217S
c.649T>A
1 paper
NM_005631.5
p.C217S
c.650G>C
2 papers
NM_005631.5
p.Q218insFs
c.652dupC
1 paper
NM_005631.5
p.C217F
c.650G>T
3 papers
NM_005631.5
p.G214S
c.640G>A
1 paper
NM_005631.5
p.G214R
c.640G>C
1 paper
NM_005631.5
p.Q218H
c.654G>C
1 paper
NM_005631.5
p.G214C
c.640G>T
1 paper
NM_005631.5
p.N219delFs
c.655_656delAA
3 papers
NM_005631.5
p.N219D
c.655A>G
1 paper
NM_005631.5
p.C213*
c.639C>A
1 paper
NM_005631.5
p.C213Y
c.638G>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."