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.P859S

c.2575C>T

Surrounding Variants

1 paper

NM_002616.3

p.H858L

c.2573A>T

1 paper

NM_002616.3

p.P864A

c.2590C>G

1 paper

NM_002616.3

p.S865P

c.2593T>C

3 papers

NM_002616.3

p.T866P

c.2596A>C

2 papers

NM_002616.3

p.E851K

c.2551G>A

1 paper

NM_002616.3

p.P867T

c.2599C>A

1 paper

NM_002616.3

p.P867R

c.2600C>G

1 paper

NM_002616.3

p.P867H

c.2600C>A

1 paper

NM_002616.3

p.W868R

c.2602T>C

1 paper

NM_002616.3

p.W868R

c.2602T>A

2 papers

NM_002616.3

p.A850T

c.2548G>A

1 paper

NM_002616.3

p.W868fs

c.2602_2603fs