Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.T623A

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.T623A
c.1867A>G
Surrounding Variants
1 paper
NM_005631.5
p.A619V
c.1856C>T
1 paper
NM_005631.5
p.A619_Q620insFs
c.1856_1859dup4
1 paper
NM_005631.5
p.W618*
c.1854G>A
1 paper
NM_005631.5
p.W618*
c.1853G>A
1 paper
NM_005631.5
p.R628G
c.1882C>G
1 paper
NM_005631.5
p.R628W
c.1882C>T
1 paper
NM_005631.5
p.W618R
c.1852T>A
1 paper
NM_005631.5
p.W618R
c.1852T>C
1 paper
NM_005631.5
p.R628Q
c.1883G>A
1 paper
NM_005631.5
p.R628L
c.1883G>T
2 papers
NM_005631.5
p.A617V
c.1850C>T
1 paper
NM_005631.5
p.R628R
c.1884G>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."