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.S296C

c.887C>G

Surrounding Variants

1 paper

NM_002616.3

p.E294G

c.881A>G

1 paper

NM_002616.3

p.Q293H

c.879G>T

1 paper

NM_002616.3

p.Q293H

c.879G>C

1 paper

NM_002616.3

p.C299F

c.896G>T

1 paper

NM_002616.3

p.Q293R

c.878A>G

1 paper

NM_002616.3

p.R300H

c.899G>A

3 papers

NM_002616.3

p.D290G

c.869A>G

1 paper

NM_002616.3

p.P276S

c.826C>T

1 paper

NM_002616.3

p.R274H

c.821G>A

1 paper

NM_002616.3

p.R274C

c.820C>T

1 paper

NM_002616.3

p.P272A

c.814C>G

1 paper

NM_002616.3

p.A259A

c.777T>C