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.S126C

c.376A>T

Surrounding Variants

1 paper

NM_002616.3

p.R131Q

c.392G>A

1 paper

NM_002616.3

p.Q135E

c.403C>G

1 paper

NM_002616.3

p.P150L

c.449C>T

1 paper

NM_002616.3

p.R153C

c.457C>T

2 papers

NM_002616.3

p.R154W

c.460C>T

1 paper

NM_002616.3

p.T164T

c.492G>A

2 papers

NM_002616.3

p.D117Y

c.349G>T

1 paper

NM_002616.3

p.A168T

c.502G>A

2 papers

NM_002616.3

p.S108insFs

c.322_323insGT

1 paper

NM_002616.3

p.A106A

c.318C>T

1 paper

NM_002616.3

p.S102G

c.304A>G

1 paper

NM_002616.3

p.T93I

c.278C>T