Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.A379A

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
7 papers
NM_005631.5
p.A379A
c.1137G>A
Surrounding Variants
1 paper
NM_005631.5
p.Q380_V381Splc
c.1140+1G>A
1 paper
NM_005631.5
p.V378M
c.1132G>A
1 paper
NM_005631.5
p.Q380_V381Splc
c.1140+2T>C
1 paper
NM_005631.5
p.A374E
c.1121C>A
1 paper
NM_005631.5
p.L371F
c.1111C>T
1 paper
NM_005631.5
p.F369V
c.1105T>G
1 paper
NM_005631.5
p.P368R
c.1103C>G
1 paper
NM_005631.5
p.P368L
c.1103C>T
2 papers
NM_005631.5
p.P368A
c.1102C>G
1 paper
NM_005631.5
p.P368S
c.1102C>T
2 papers
NM_005631.5
p.L367R
c.1100T>G
1 paper
NM_005631.5
p.W365fs
c.1093_1094fs
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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."