Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.G717insFs

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.G717insFs
c.2149_2150insT
Surrounding Variants
1 paper
NM_005631.5
p.G717insFs
c.2150_2151insT
1 paper
NM_005631.5
p.A718T
c.2152G>A
1 paper
NM_005631.5
p.A718S
c.2152G>T
1 paper
NM_005631.5
p.A715V
c.2144C>T
1 paper
NM_005631.5
p.V714V
c.2142G>A
1 paper
NM_005631.5
p.V714fs
c.2140_2141fs
1 paper
NM_005631.5
p.K711*
c.2131A>T
1 paper
NM_005631.5
p.Q710H
c.2130G>C
1 paper
NM_005631.5
p.Q710H
c.2130G>T
1 paper
NM_005631.5
p.Q710E
c.2128C>G
1 paper
NM_005631.5
p.S724F
c.2171C>T
2 papers
NM_005631.5
p.R709Q
c.2126G>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."