Varaico: Literature-Extracted Genetic Variants

Gene:HCRT
Variant:p.V8delFs

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
3 papers
NM_001524.1
p.V8delFs
c.22_23delAC
Surrounding Variants
2 papers
NM_001524.1
p.W10*
c.29G>A
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.L17_L18del2
c.49_53del6
1 paper
NM_001524.1
p.P23P
c.69G>C
2 papers
NM_001524.1
p.L22_P23del2
c.64_68del6
1 paper
NM_001524.1
p.P35P
c.105C>T
1 paper
NM_001524.1
p.P37S
c.109C>T
1 paper
NM_001524.1
p.D38N
c.112G>A
1 paper
NM_001524.1
p.D38E
c.114C>G
1 paper
NM_001524.1
p.Q42R
c.125A>G
1 paper
NM_001524.1
p.K43*
c.127A>T
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