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

2 papers

NM_002616.3

p.V764fs

c.2290_2291fs

Surrounding Variants

2 papers

NM_002616.3

p.T763_V764insFs

c.2289_2290insC

1 paper

NM_002616.3

p.P766fs

c.2296_2297fs

1 paper

NM_002616.3

p.P766P

c.2298T>C

1 paper

NM_002616.3

p.P762fs

c.2284_2285fs

1 paper

NM_002616.3

p.P762A

c.2284C>G

1 paper

NM_002616.3

p.S761R

c.2283C>G

1 paper

NM_002616.3

p.S761R

c.2283C>A

1 paper

NM_002616.3

p.S761N

c.2282G>A

1 paper

NM_002616.3

p.S761R

c.2281A>C

1 paper

NM_002616.3

p.P760S

c.2278C>T

1 paper

NM_002616.3

p.S757R

c.2271C>G

1 paper

NM_002616.3

p.S757R

c.2271C>A