Varaico: Literature-Extracted Genetic Variants

PER1

252 papers

RefSeq Summary

This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family...

Pfam Domains

bHLH_PERaa 131–190UCSCPeriod circadian protein homolog bHLH-like domain

Per3-like_PAS-Aaa 218–342UCSCPeriod circadian protein homolog 3-like, PAS-A domain

PAS_3aa 370–459UCSCPAS fold

Period_Caa 1032–1202UCSCPeriod circadian-like, C-terminal

Gene Aliases

HGNC Name

period circadian regulator 1

HGNC Alias Symbol

RIGUI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002616.3

p.R841C

c.2521C>T

Surrounding Variants

1 paper

NM_002616.3

p.A839A

c.2517C>T

1 paper

NM_002616.3

p.S837F

c.2510C>T

1 paper

NM_002616.3

p.N847N

c.2541C>T

1 paper

NM_002616.3

p.R832Q

c.2495G>A

2 papers

NM_002616.3

p.A850T

c.2548G>A

1 paper

NM_002616.3

p.R831H

c.2492G>A

2 papers

NM_002616.3

p.E851K

c.2551G>A

1 paper

NM_002616.3

p.R831C

c.2491C>T

1 paper

NM_002616.3

p.P828delFs

c.2482_2483delGG

1 paper

NM_002616.3

p.A827T

c.2479G>A

1 paper

NM_002616.3

p.P826P

c.2478C>T

1 paper

NM_002616.3

p.H858L

c.2573A>T