Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.C390R

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.C390R
c.1168T>C
Surrounding Variants
1 paper
NM_005631.5
p.I389V
c.1165A>G
13 papers
NM_005631.5
p.G388G
c.1164G>C
1 paper
NM_005631.5
p.V392M
c.1174G>A
1 paper
NM_005631.5
p.G388W
c.1162G>T
1 paper
NM_005631.5
p.V392L
c.1174G>T
1 paper
NM_005631.5
p.V392G
c.1175T>G
2 papers
NM_005631.5
p.S387N
c.1160G>A
1 paper
NM_005631.5
p.S387C
c.1159A>T
1 paper
NM_005631.5
p.G393S
c.1177G>A
1 paper
NM_005631.5
p.G393D
c.1178G>A
2 papers
NM_005631.5
p.Y394insFs
c.1180_1181insT
2 papers
NM_005631.5
p.V386A
c.1157T>C
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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."