Varaico: Literature-Extracted Genetic Variants

Gene:HCRTR1
Variant:p.S252L

HCRTR1

79 papers

RefSeq Summary

The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related...

Pfam Domains

7tm_1aa 63–358UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

hypocretin receptor 1

HGNC Alias Symbols

OX1R; ORXR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001525.3
p.S252L
c.755C>T
Surrounding Variants
1 paper
NM_001525.3
p.T251I
c.752C>T
2 papers
NM_001525.3
p.G249S
c.745G>A
1 paper
NM_001525.3
p.R256W
c.766C>T
1 paper
NM_001525.3
p.R256Q
c.767G>A
1 paper
NM_001525.3
p.P248T
c.742C>A
1 paper
NM_001525.3
p.P248A
c.742C>G
1 paper
NM_001525.3
p.K259E
c.775A>G
1 paper
NM_001525.3
p.K259R
c.776A>G
1 paper
NM_001525.3
p.R260C
c.778C>T
2 papers
NM_001525.3
p.R260H
c.779G>A
1 paper
NM_001525.3
p.D263A
c.788A>C
1 paper
NM_001525.3
p.Q264P
c.791A>C
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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."