Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.A459V

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
14 papers
NM_005631.5
p.A459V
c.1376C>T
Surrounding Variants
1 paper
NM_005631.5
p.A459delins
c.1376_1377delinsTT
2 papers
NM_005631.5
p.A459_F467insFs
c.1375_1399dup25
5 papers
NM_005631.5
p.F460L
c.1378T>C
5 papers
NM_005631.5
p.F460L
c.1380T>A
5 papers
NM_005631.5
p.F460L
c.1380T>G
3 papers
NM_005631.5
p.G461S
c.1381G>A
3 papers
NM_005631.5
p.F457S
c.1370T>C
2 papers
NM_005631.5
p.L464_C469delFs
c.1392_1405del14
1 paper
NM_005631.5
p.L464F
c.1390C>T
1 paper
NM_005631.5
p.G453V
c.1358G>T
1 paper
NM_005631.5
p.F467delFs
c.1400delT
1 paper
NM_005631.5
p.F467fs
c.1399_1400fs
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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."