Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.G191G

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
2 papers
NM_005631.5
p.G191G
c.573C>G
Surrounding Variants
2 papers
NM_005631.5
p.Q192*
c.574C>T
1 paper
NM_005631.5
p.Q192R
c.575A>G
1 paper
NM_005631.5
p.S190S
c.570A>G
1 paper
NM_005631.5
p.C193F
c.578G>T
2 papers
NM_005631.5
p.E194K
c.580G>A
1 paper
NM_005631.5
p.S189N
c.566G>A
2 papers
NM_005631.5
p.E194E
c.582A>G
1 paper
NM_005631.5
p.V195L
c.583G>C
1 paper
NM_005631.5
p.V195L
c.583G>T
1 paper
NM_005631.5
p.V195A
c.584T>C
2 papers
NM_005631.5
p.P196S
c.586C>T
2 papers
NM_005631.5
p.F187V
c.559T>G
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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."