Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.Q635E

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.Q635E
c.1903C>G
Surrounding Variants
1 paper
NM_005631.5
p.Q635fs
c.1903_1904fs
1 paper
NM_005631.5
p.P634L
c.1901C>T
1 paper
NM_005631.5
p.Q635delFs
c.1903delC
2 papers
NM_005631.5
p.I637T
c.1910T>C
1 paper
NM_005631.5
p.S638F
c.1913C>T
1 paper
NM_005631.5
p.A631V
c.1892C>T
2 papers
NM_005631.5
p.V639A
c.1916T>C
1 paper
NM_005631.5
p.G630E
c.1889G>A
1 paper
NM_005631.5
p.T640fs
c.1918_1919fs
20 papers
NM_005631.5
p.T640A
c.1918A>G
2 papers
NM_005631.5
p.T640I
c.1919C>T
2 papers
NM_005631.5
p.R629K
c.1886G>A
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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."