Varaico: Literature-Extracted Genetic Variants

PER2

208 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 104–163UCSCPeriod circadian protein homolog bHLH-like domain

Per3-like_PAS-Aaa 191–315UCSCPeriod circadian protein homolog 3-like, PAS-A domain

PAS_3aa 343–432UCSCPAS fold

Period_Caa 1046–1208UCSCPeriod circadian-like, C-terminal

Gene Aliases

HGNC Name

period circadian regulator 2

HGNC Alias Symbol

KIAA0347

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022817.3

p.E1110_N1111delFs

c.3330_3331delTC

Surrounding Variants

1 paper

NM_022817.3

p.G1092Splc

c.3275-1G>A

1 paper

NM_022817.3

p.V1131I

c.3391G>A

1 paper

NM_022817.3

p.D1142N

c.3424G>A

1 paper

NM_022817.3

p.L1153del1

c.3457_3458delCAG

1 paper

NM_022817.3

p.A1086T

c.3256G>A

1 paper

NM_022817.3

p.C1084C

c.3252C>T

1 paper

NM_022817.3

p.L1077V

c.3229C>G

1 paper

NM_022817.3

p.A1073P

c.3217G>C

1 paper

NM_022817.3

p.D1048N

c.3142G>A

1 paper

NM_022817.3

p.F1179L

c.3535T>C

1 paper

NM_022817.3

p.F1179L

c.3537C>G

1 paper

NM_022817.3

p.F1179L

c.3537C>A