Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.G497R

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.G497R
c.1489G>A
Surrounding Variants
1 paper
NM_005631.5
p.G497R
c.1489G>C
9 papers
NM_005631.5
p.G497W
c.1489G>T
1 paper
NM_005631.5
p.G497_T500delFs
c.1490_1500del11
1 paper
NM_005631.5
p.T495S
c.1484C>G
1 paper
NM_005631.5
p.T495S
c.1483A>T
1 paper
NM_005631.5
p.A492T
c.1474G>A
1 paper
NM_005631.5
p.C507delFs
c.1520_1521delGT
1 paper
NM_005631.5
p.C507fs
c.1519_1520fs
1 paper
NM_005631.5
p.C507W
c.1521T>G
1 paper
NM_005631.5
p.K510_N511insFs
c.1530_1531insC
3 papers
NM_005631.5
p.R512H
c.1535G>A
1 paper
NM_005631.5
p.P513Q
c.1538C>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."