Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.W655*

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.W655*
c.1965G>A
Surrounding Variants
1 paper
NM_005631.5
p.W655*
c.1964G>A
1 paper
NM_005631.5
p.L654M
c.1960C>A
1 paper
NM_005631.5
p.W655_L656del2
c.1963_1967del6
1 paper
NM_005631.5
p.E658V
c.1973A>T
1 paper
NM_005631.5
p.A652fs
c.1954_1955fs
1 paper
NM_005631.5
p.E660Q
c.1978G>C
1 paper
NM_005631.5
p.Q651K
c.1951C>A
1 paper
NM_005631.5
p.Q651delFs
c.1953delA
1 paper
NM_005631.5
p.E650K
c.1948G>A
1 paper
NM_005631.5
p.P663delFs
c.1988delC
1 paper
NM_005631.5
p.P648Q
c.1943C>A
1 paper
NM_005631.5
p.P663S
c.1987C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."