Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.L665delFs

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.L665delFs
c.1995delG
Surrounding Variants
1 paper
NM_005631.5
p.P663S
c.1987C>T
1 paper
NM_005631.5
p.R668C
c.2002C>T
1 paper
NM_005631.5
p.R668L
c.2003G>T
1 paper
NM_005631.5
p.P663delFs
c.1988delC
1 paper
NM_005631.5
p.R671_K672del2
c.2011_2015del6
1 paper
NM_005631.5
p.E660Q
c.1978G>C
2 papers
NM_005631.5
p.R671insFs
c.2012dupG
3 papers
NM_005631.5
p.R671W
c.2011C>T
1 paper
NM_005631.5
p.R671_K672del1
c.2013_2015delGAA
1 paper
NM_005631.5
p.E658V
c.1973A>T
1 paper
NM_005631.5
p.K672N
c.2016G>C
1 paper
NM_005631.5
p.K672N
c.2016G>T
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