Varaico: Literature-Extracted Genetic Variants

Gene:HCRT

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
1–12 of 47 variants
7 papers
NM_001524.1
p.L16R
c.47T>G
6 papers
NM_001524.1
p.L22_P23del1
c.65_67delGCA
4 papers
NM_001524.1
p.T6fs
c.16_17fs
4 papers
NM_001524.1
p.T6delFs
c.17_18delTG
4 papers
NM_001524.1
p.K7_V8Splc
c.21+16T>C
4 papers
NM_001524.1
p.L17_L18del2
c.49_53del6
4 papers
NM_001524.1
p.K68R
c.203A>G
4 papers
NM_001524.1
p.T65_G67del3
c.193_200del9
3 papers
NM_001524.1
p.V8delFs
c.22_23delAC
2 papers
NM_001524.1
p.W10*
c.29G>A
2 papers
NM_001524.1
p.L22_P23del2
c.64_68del6
2 papers
NM_001524.1
p.G98R
c.292G>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."