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.P895S

c.2683C>T

Surrounding Variants

1 paper

NM_002616.3

p.G894delFs

c.2681_2682delGC

1 paper

NM_002616.3

p.G894fs

c.2680_2681fs

1 paper

NM_002616.3

p.L898F

c.2692C>T

1 paper

NM_002616.3

p.F889L

c.2667C>G

1 paper

NM_002616.3

p.F889L

c.2667C>A

1 paper

NM_002616.3

p.F889L

c.2665T>C

1 paper

NM_002616.3

p.A912P

c.2734G>C

1 paper

NM_002616.3

p.F877F

c.2631C>T

1 paper

NM_002616.3

p.F877L

c.2631C>G

1 paper

NM_002616.3

p.F877L

c.2631C>A

1 paper

NM_002616.3

p.F877L

c.2629T>C

1 paper

NM_002616.3

p.P871P

c.2613A>C