Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.D209H

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.D209H
c.625G>C
Surrounding Variants
1 paper
NM_005631.5
p.D209N
c.625G>A
1 paper
NM_005631.5
p.D209Y
c.625G>T
2 papers
NM_005631.5
p.V210M
c.628G>A
1 paper
NM_005631.5
p.E208K
c.622G>A
1 paper
NM_005631.5
p.V210L
c.628G>C
2 papers
NM_005631.5
p.E208*
c.622G>T
1 paper
NM_005631.5
p.V210L
c.628G>T
2 papers
NM_005631.5
p.Y207fs
c.619_620fs
2 papers
NM_005631.5
p.W206*
c.618G>A
1 paper
NM_005631.5
p.W206C
c.618G>T
2 papers
NM_005631.5
p.W206*
c.617G>A
1 paper
NM_005631.5
p.W206L
c.617G>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."