Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.Q228*

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.Q228*
c.682C>T
Surrounding Variants
1 paper
NM_005631.5
p.M230I
c.690G>A
1 paper
NM_005631.5
p.H231Y
c.691C>T
4 papers
NM_005631.5
p.H231R
c.692A>G
1 paper
NM_005631.5
p.E224A
c.671A>C
1 paper
NM_005631.5
p.H231Q
c.693C>A
1 paper
NM_005631.5
p.H231Q
c.693C>G
1 paper
NM_005631.5
p.T223T
c.669A>G
1 paper
NM_005631.5
p.T223I
c.668C>T
1 paper
NM_005631.5
p.E224delFs
c.671_672delAG
1 paper
NM_005631.5
p.Y233Y
c.699C>T
1 paper
NM_005631.5
p.L221L
c.663C>T
1 paper
NM_005631.5
p.I234M
c.702C>G
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