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

3 papers

NM_002616.3

p.G749G

c.2247C>T

Surrounding Variants

1 paper

NM_002616.3

p.G753R

c.2257G>C

3 papers

NM_002616.3

p.A755T

c.2263G>A

1 paper

NM_002616.3

p.A755V

c.2264C>T

1 paper

NM_002616.3

p.S757R

c.2269A>C

1 paper

NM_002616.3

p.S757R

c.2271C>G

1 paper

NM_002616.3

p.S757R

c.2271C>A

1 paper

NM_002616.3

p.D740N

c.2218G>A

1 paper

NM_002616.3

p.P760S

c.2278C>T

1 paper

NM_002616.3

p.S761R

c.2281A>C

1 paper

NM_002616.3

p.S761N

c.2282G>A

1 paper

NM_002616.3

p.S761R

c.2283C>G

1 paper

NM_002616.3

p.S761R

c.2283C>A