Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.T245T

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.T245T
c.735G>A
Surrounding Variants
1 paper
NM_005631.5
p.T245M
c.734C>T
1 paper
NM_005631.5
p.G242V
c.725G>T
1 paper
NM_005631.5
p.G242S
c.724G>A
1 paper
NM_005631.5
p.G242C
c.724G>T
9 papers
NM_005631.5
p.T241M
c.722C>T
1 paper
NM_005631.5
p.V240D
c.719T>A
2 papers
NM_005631.5
p.V240I
c.718G>A
1 paper
NM_005631.5
p.A239A
c.717C>T
1 paper
NM_005631.5
p.L249_A250Splc
c.747+9C>T
1 paper
NM_005631.5
p.G238E
c.713G>A
4 papers
NM_005631.5
p.G238R
c.712G>A
3 papers
NM_005631.5
p.G238R
c.712G>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."