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

3 papers

NM_022817.3

p.I385delFs

c.1153delT

Surrounding Variants

1 paper

NM_022817.3

p.H382Q

c.1146C>G

1 paper

NM_022817.3

p.H382Q

c.1146C>A

1 paper

NM_022817.3

p.P358S

c.1072C>T

2 papers

NM_022817.3

p.I385fs

c.1153_1154fs

1 paper

NM_022817.3

p.R401C

c.1201C>T

1 paper

NM_022817.3

p.C449Y

c.1346G>A

1 paper

NM_022817.3

p.R468Q

c.1403G>A

1 paper

NM_022817.3

p.P475L

c.1424C>T

3 papers

NM_022817.3

p.H476N

c.1426C>A

1 paper

NM_022817.3

p.Y482fs

c.1444_1445fs

1 paper

NM_022817.3

p.Y482insFs

c.1445dupA

1 paper

NM_022817.3

p.A514V

c.1541C>T