Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.R400H

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
2 papers
NM_005631.5
p.R400H
c.1199G>A
Surrounding Variants
1 paper
NM_005631.5
p.R400G
c.1198C>G
3 papers
NM_005631.5
p.R400C
c.1198C>T
2 papers
NM_005631.5
p.Y399S
c.1196A>C
4 papers
NM_005631.5
p.A401V
c.1202C>T
1 paper
NM_005631.5
p.G402_V404del3
c.1204_1211del9
2 papers
NM_005631.5
p.A401A
c.1203G>C
1 paper
NM_005631.5
p.G402S
c.1204G>A
1 paper
NM_005631.5
p.R398Q
c.1193G>A
1 paper
NM_005631.5
p.R398L
c.1193G>T
1 paper
NM_005631.5
p.R398*
c.1192C>T
2 papers
NM_005631.5
p.F403L
c.1207T>C
1 paper
NM_005631.5
p.Y397S
c.1190A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."