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

4 papers

NM_002616.3

p.P474R

c.1421C>G

Surrounding Variants

1 paper

NM_002616.3

p.P474L

c.1421C>T

1 paper

NM_002616.3

p.F471fs

c.1411_1412fs

1 paper

NM_002616.3

p.F471insFs

c.1411_1412insGT

1 paper

NM_002616.3

p.A479T

c.1435G>A

1 paper

NM_002616.3

p.L466fs

c.1396_1397fs

1 paper

NM_002616.3

p.L466delFs

c.1397delA

1 paper

NM_002616.3

p.A464delFs

c.1391delG

1 paper

NM_002616.3

p.A464P

c.1390G>C

1 paper

NM_002616.3

p.T463K

c.1388C>A

1 paper

NM_002616.3

p.T463K

c.1388C>A

1 paper

NM_002616.3

p.R462C

c.1384C>T

1 paper

NM_002616.3

p.R458H

c.1373G>A