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

1–12 of 278 variants

12 papers

NM_002616.3

p.A962P

c.2884G>C

5 papers

NM_002616.3

p.V240I

c.718G>A

4 papers

NM_002616.3

p.P474R

c.1421C>G

4 papers

NM_002616.3

p.A998T

c.2992G>A

3 papers

NM_002616.3

p.P37S

c.109C>T

3 papers

NM_002616.3

p.D290G

c.869A>G

3 papers

NM_002616.3

p.R450H

c.1349G>A

3 papers

NM_002616.3

p.G749G

c.2247C>T

3 papers

NM_002616.3

p.A755T

c.2263G>A

3 papers

NM_002616.3

p.P859S

c.2575C>T

3 papers

NM_002616.3

p.T866P

c.2596A>C

3 papers

NM_002616.3

p.A1196V

c.3587C>T