Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.T179M

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
18 papers
NM_005631.5
p.T179M
c.536C>T
Surrounding Variants
1 paper
NM_005631.5
p.T179A
c.535A>G
1 paper
NM_005631.5
p.C178Y
c.533G>A
1 paper
NM_005631.5
p.G177S
c.529G>A
1 paper
NM_005631.5
p.G177R
c.529G>C
1 paper
NM_005631.5
p.G177C
c.529G>T
1 paper
NM_005631.5
p.E176E
c.528A>G
1 paper
NM_005631.5
p.P175R
c.524C>G
1 paper
NM_005631.5
p.P175L
c.524C>T
1 paper
NM_005631.5
p.T179_N180Splc
c.537+14G>T
1 paper
NM_005631.5
p.F174V
c.520T>G
7 papers
NM_005631.5
p.R173H
c.518G>A
11 papers
NM_005631.5
p.R173C
c.517C>T
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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."