Varaico: Literature-Extracted Genetic Variants

Gene:HCRT
Variant:p.Q42R

HCRT

78 papers

RefSeq Summary

This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orph...

Pfam Domains

Orexinaa 1–130UCSCPrepro-orexin

Gene Aliases

HGNC Name

hypocretin neuropeptide precursor

HGNC Alias Symbol

OX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001524.1
p.Q42R
c.125A>G
Surrounding Variants
1 paper
NM_001524.1
p.K43*
c.127A>T
1 paper
NM_001524.1
p.D38E
c.114C>G
1 paper
NM_001524.1
p.D38N
c.112G>A
1 paper
NM_001524.1
p.P37S
c.109C>T
1 paper
NM_001524.1
p.C47W
c.141C>G
1 paper
NM_001524.1
p.P35P
c.105C>T
1 paper
NM_001524.1
p.E51Q
c.151G>C
1 paper
NM_001524.1
p.E51D
c.153G>C
1 paper
NM_001524.1
p.L53R
c.158T>G
1 paper
NM_001524.1
p.H54R
c.161A>G
1 paper
NM_001524.1
p.G55R
c.163G>C
1 paper
NM_001524.1
p.G55S
c.163G>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."