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

2 papers

NM_022817.3

p.A664V

c.1991C>T

Surrounding Variants

4 papers

NM_022817.3

p.S665A

c.1993T>G

1 paper

NM_022817.3

p.V663A

c.1988T>C

2 papers

NM_022817.3

p.L666V

c.1996C>G

45 papers

NM_022817.3

p.S662G

c.1984A>G

1 paper

NM_022817.3

p.E661A

c.1982A>C

1 paper

NM_022817.3

p.L651R

c.1952T>G

1 paper

NM_022817.3

p.G680R

c.2038G>C

1 paper

NM_022817.3

p.G680R

c.2038G>A

1 paper

NM_022817.3

p.V647G

c.1940T>G

1 paper

NM_022817.3

p.R644fs

c.1930_1931fs

1 paper

NM_022817.3

p.R644delFs

c.1931delC

1 paper

NM_022817.3

p.Q685K

c.2053C>A