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.A943delins

c.2827delinsCGGG

Surrounding Variants

1 paper

NM_002616.3

p.P924L

c.2771C>T

12 papers

NM_002616.3

p.A962P

c.2884G>C

1 paper

NM_002616.3

p.P963L

c.2888C>T

1 paper

NM_002616.3

p.P963P

c.2889G>A

1 paper

NM_002616.3

p.R968C

c.2902C>T

1 paper

NM_002616.3

p.P969A

c.2905C>G

2 papers

NM_002616.3

p.P969L

c.2906C>T

1 paper

NM_002616.3

p.A912P

c.2734G>C

1 paper

NM_002616.3

p.R977I

c.2930G>T

1 paper

NM_002616.3

p.L898F

c.2692C>T

1 paper

NM_002616.3

p.Q988P

c.2963A>C

1 paper

NM_002616.3

p.P895S

c.2683C>T