Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.A531T

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.A531T
c.1591G>A
Surrounding Variants
1 paper
NM_005631.5
p.M532I
c.1596G>A
1 paper
NM_005631.5
p.M532I
c.1596G>C
2 papers
NM_005631.5
p.G529V
c.1586G>T
1 paper
NM_005631.5
p.M532I
c.1596G>T
1 paper
NM_005631.5
p.G529S
c.1585G>A
1 paper
NM_005631.5
p.G529C
c.1585G>T
13 papers
NM_005631.5
p.S533N
c.1598G>A
1 paper
NM_005631.5
p.T534delFs
c.1600delA
1 paper
NM_005631.5
p.T528A
c.1582A>G
1 paper
NM_005631.5
p.T534fs
c.1600_1601fs
4 papers
NM_005631.5
p.T534I
c.1601C>T
3 papers
NM_005631.5
p.W535R
c.1603T>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."