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.S73Y

c.218C>A

Surrounding Variants

1 paper

NM_002616.3

p.S75L

c.224C>T

1 paper

NM_002616.3

p.E85V

c.254A>T

1 paper

NM_002616.3

p.E85D

c.255G>T

1 paper

NM_002616.3

p.E85D

c.255G>C

1 paper

NM_002616.3

p.D46G

c.137A>G

3 papers

NM_002616.3

p.P37S

c.109C>T

1 paper

NM_002616.3

p.P35S

c.103C>T

1 paper

NM_002616.3

p.H33Y

c.97C>T

1 paper

NM_002616.3

p.P31Q

c.92C>A

1 paper

NM_002616.3

p.T93I

c.278C>T

1 paper

NM_002616.3

p.G10delFs

c.29delC

1 paper

NM_002616.3

p.D9N

c.25G>A