Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.T640A

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
20 papers
NM_005631.5
p.T640A
c.1918A>G
Surrounding Variants
1 paper
NM_005631.5
p.T640fs
c.1918_1919fs
2 papers
NM_005631.5
p.T640I
c.1919C>T
2 papers
NM_005631.5
p.V639A
c.1916T>C
2 papers
NM_005631.5
p.P641T
c.1921C>A
14 papers
NM_005631.5
p.P641A
c.1921C>G
1 paper
NM_005631.5
p.P641S
c.1921C>T
1 paper
NM_005631.5
p.P641L
c.1922C>T
1 paper
NM_005631.5
p.S638F
c.1913C>T
2 papers
NM_005631.5
p.I637T
c.1910T>C
1 paper
NM_005631.5
p.T644I
c.1931C>T
1 paper
NM_005631.5
p.Q635E
c.1903C>G
1 paper
NM_005631.5
p.P645S
c.1933C>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."