Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.L312Q

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.L312Q
c.935T>A
Surrounding Variants
2 papers
NM_005631.5
p.V315I
c.943G>A
2 papers
NM_005631.5
p.N309K
c.927T>A
2 papers
NM_005631.5
p.N309K
c.927T>G
3 papers
NM_005631.5
p.N309S
c.926A>G
1 paper
NM_005631.5
p.I317_F318insFs
c.951_952ins4
1 paper
NM_005631.5
p.F318L
c.952T>C
1 paper
NM_005631.5
p.F318L
c.954T>A
1 paper
NM_005631.5
p.F318L
c.954T>G
1 paper
NM_005631.5
p.V319I
c.955G>A
1 paper
NM_005631.5
p.T307Splc
c.921-7T>A
1 paper
NM_005631.5
p.T307Splc
c.921-9T>A
1 paper
NM_005631.5
p.I320I
c.960C>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."