Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.P203L

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.P203L
c.608C>T
Surrounding Variants
1 paper
NM_005631.5
p.P203S
c.607C>T
1 paper
NM_005631.5
p.N202K
c.606C>A
1 paper
NM_005631.5
p.N202K
c.606C>G
2 papers
NM_005631.5
p.N202S
c.605A>G
1 paper
NM_005631.5
p.K204R
c.611A>G
1 paper
NM_005631.5
p.S205_W206insFs
c.615_616insG
1 paper
NM_005631.5
p.T200I
c.599C>T
1 paper
NM_005631.5
p.T200_D201delFs
c.600_601delAG
2 papers
NM_005631.5
p.W206*
c.617G>A
1 paper
NM_005631.5
p.W206L
c.617G>T
2 papers
NM_005631.5
p.W206*
c.618G>A
1 paper
NM_005631.5
p.W206C
c.618G>T
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