Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.V414L

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.V414L
c.1240G>T
Surrounding Variants
1 paper
NM_005631.5
p.V414L
c.1240G>C
2 papers
NM_005631.5
p.V414A
c.1241T>C
1 paper
NM_005631.5
p.I413N
c.1238T>A
2 papers
NM_005631.5
p.L412P
c.1235T>C
118 papers
NM_005631.5
p.L412F
c.1234C>T
1 paper
NM_005631.5
p.G416R
c.1246G>C
1 paper
NM_005631.5
p.G416C
c.1246G>T
3 papers
NM_005631.5
p.G416D
c.1247G>A
2 papers
NM_005631.5
p.G416delins
c.1247_1248delinsAA
1 paper
NM_005631.5
p.L410Q
c.1229T>A
1 paper
NM_005631.5
p.L410P
c.1229T>C
1 paper
NM_005631.5
p.L410M
c.1228C>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."