Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.L412F

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
118 papers
NM_005631.5
p.L412F
c.1234C>T
Surrounding Variants
2 papers
NM_005631.5
p.L412P
c.1235T>C
1 paper
NM_005631.5
p.I413N
c.1238T>A
1 paper
NM_005631.5
p.L410Q
c.1229T>A
1 paper
NM_005631.5
p.L410P
c.1229T>C
1 paper
NM_005631.5
p.L410M
c.1228C>A
1 paper
NM_005631.5
p.V414L
c.1240G>C
1 paper
NM_005631.5
p.V414L
c.1240G>T
2 papers
NM_005631.5
p.V414A
c.1241T>C
1 paper
NM_005631.5
p.G409V
c.1226G>T
1 paper
NM_005631.5
p.I408T
c.1223T>C
1 paper
NM_005631.5
p.I408L
c.1222A>C
7 papers
NM_005631.5
p.I408V
c.1222A>G
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