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.R1164*

c.3490C>T

Surrounding Variants

1 paper

NM_002616.3

p.Q1167*

c.3499C>T

1 paper

NM_002616.3

p.R1160Q

c.3479G>A

1 paper

NM_002616.3

p.Q1158R

c.3473A>G

1 paper

NM_002616.3

p.S1154C

c.3461C>G

1 paper

NM_002616.3

p.M1152V

c.3454A>G

1 paper

NM_002616.3

p.R1178W

c.3532C>T

1 paper

NM_002616.3

p.R1150Splc

c.3450-2A>C

1 paper

NM_002616.3

p.R1178Q

c.3533G>A

1 paper

NM_002616.3

p.R1150Splc

c.3450-8T>C

1 paper

NM_002616.3

p.R1189W

c.3565C>T

1 paper

NM_002616.3

p.R1195W

c.3583C>T

1 paper

NM_002616.3

p.R1195Q

c.3584G>A