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.W185R

c.553T>C

Surrounding Variants

1 paper

NM_002616.3

p.W185R

c.553T>A

1 paper

NM_002616.3

p.Q184E

c.550C>G

1 paper

NM_002616.3

p.S186I

c.557G>T

1 paper

NM_002616.3

p.D196G

c.587A>G

1 paper

NM_002616.3

p.A177Splc

c.530-22C>T

1 paper

NM_002616.3

p.Y200F

c.599A>T

1 paper

NM_002616.3

p.T213T

c.639A>C

1 paper

NM_002616.3

p.L214F

c.640C>T

1 paper

NM_002616.3

p.A168T

c.502G>A

1 paper

NM_002616.3

p.T164T

c.492G>A

2 papers

NM_002616.3

p.R154W

c.460C>T

1 paper

NM_002616.3

p.R153C

c.457C>T