Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.E578K

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.E578K
c.1732G>A
Surrounding Variants
1 paper
NM_005631.5
p.H577H
c.1731C>T
1 paper
NM_005631.5
p.R576R
c.1728G>T
2 papers
NM_005631.5
p.L580del1
c.1738_1739delCTG
4 papers
NM_005631.5
p.R576Q
c.1727G>A
5 papers
NM_005631.5
p.R576W
c.1726C>T
18 papers
NM_005631.5
p.K575M
c.1724A>T
6 papers
NM_005631.5
p.S574S
c.1722T>C
1 paper
NM_005631.5
p.A572_F573insFs
c.1716_1717insG
1 paper
NM_005631.5
p.G584V
c.1751G>T
1 paper
NM_005631.5
p.E586K
c.1756G>A
1 paper
NM_005631.5
p.L587L
c.1759C>T
1 paper
NM_005631.5
p.M568L
c.1702A>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."