Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.F484F

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.F484F
c.1452C>T
Surrounding Variants
2 papers
NM_005631.5
p.R485G
c.1453C>G
2 papers
NM_005631.5
p.R485W
c.1453C>T
1 paper
NM_005631.5
p.R485Q
c.1454G>A
1 paper
NM_005631.5
p.D486E
c.1458C>A
1 paper
NM_005631.5
p.D486E
c.1458C>G
2 papers
NM_005631.5
p.R482H
c.1445G>A
2 papers
NM_005631.5
p.R482S
c.1444C>A
1 paper
NM_005631.5
p.R482C
c.1444C>T
2 papers
NM_005631.5
p.E481G
c.1442A>G
1 paper
NM_005631.5
p.W480*
c.1440G>A
1 paper
NM_005631.5
p.L489I
c.1465C>A
1 paper
NM_005631.5
p.W480*
c.1439G>A
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