Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.A601Splc

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.A601Splc
c.1802-8T>C
Surrounding Variants
2 papers
NM_005631.5
p.A601V
c.1802C>T
1 paper
NM_005631.5
p.L603F
c.1809G>C
1 paper
NM_005631.5
p.L603F
c.1809G>T
1 paper
NM_005631.5
p.D606H
c.1816G>C
2 papers
NM_005631.5
p.N608S
c.1823A>G
3 papers
NM_005631.5
p.P610S
c.1828C>T
1 paper
NM_005631.5
p.P610L
c.1829C>T
1 paper
NM_005631.5
p.A601Splc
c.1802-51G>C
1 paper
NM_005631.5
p.V614I
c.1840G>A
1 paper
NM_005631.5
p.V614A
c.1841T>C
2 papers
NM_005631.5
p.A617V
c.1850C>T
1 paper
NM_005631.5
p.W618R
c.1852T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."