Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.Y337Y

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.Y337Y
c.1011T>C
Surrounding Variants
1 paper
NM_005631.5
p.A338V
c.1013C>T
4 papers
NM_005631.5
p.T336I
c.1007C>T
1 paper
NM_005631.5
p.T336A
c.1006A>G
1 paper
NM_005631.5
p.W339*
c.1016G>A
1 paper
NM_005631.5
p.W339*
c.1017G>A
1 paper
NM_005631.5
p.H340R
c.1019A>G
1 paper
NM_005631.5
p.L335Fs
c.1003delinsGAFs
1 paper
NM_005631.5
p.H340H
c.1020C>T
2 papers
NM_005631.5
p.V334G
c.1001T>G
1 paper
NM_005631.5
p.S342P
c.1024T>C
3 papers
NM_005631.5
p.S342F
c.1025C>T
1 paper
NM_005631.5
p.F332L
c.996T>A
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