Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.Q635delFs

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.Q635delFs
c.1903delC
Surrounding Variants
1 paper
NM_005631.5
p.P634L
c.1901C>T
1 paper
NM_005631.5
p.Q635E
c.1903C>G
1 paper
NM_005631.5
p.Q635fs
c.1903_1904fs
1 paper
NM_005631.5
p.A631V
c.1892C>T
1 paper
NM_005631.5
p.G630E
c.1889G>A
2 papers
NM_005631.5
p.I637T
c.1910T>C
2 papers
NM_005631.5
p.R629K
c.1886G>A
1 paper
NM_005631.5
p.S638F
c.1913C>T
1 paper
NM_005631.5
p.R628R
c.1884G>A
1 paper
NM_005631.5
p.R628Q
c.1883G>A
1 paper
NM_005631.5
p.R628L
c.1883G>T
1 paper
NM_005631.5
p.R628G
c.1882C>G
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