Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.V600E

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
4 papers
NM_005631.5
p.V600E
c.1799T>A
Surrounding Variants
1 paper
NM_005631.5
p.V600G
c.1799T>G
2 papers
NM_005631.5
p.V600M
c.1798G>A
1 paper
NM_005631.5
p.V600L
c.1798G>C
1 paper
NM_005631.5
p.V600L
c.1798G>T
1 paper
NM_005631.5
p.A601T
c.1801G>A
2 papers
NM_005631.5
p.P599H
c.1796C>A
6 papers
NM_005631.5
p.A601V
c.1802C>T
2 papers
NM_005631.5
p.G598R
c.1792G>A
2 papers
NM_005631.5
p.G598R
c.1792G>C
1 paper
NM_005631.5
p.D597N
c.1789G>A
1 paper
NM_005631.5
p.T593S
c.1778C>G
1 paper
NM_005631.5
p.T593_V594delFs
c.1779_1780delTG
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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."