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.R779S

c.2337A>C

Surrounding Variants

1 paper

NM_022817.3

p.R779S

c.2337A>T

1 paper

NM_022817.3

p.K789*

c.2365A>T

1 paper

NM_022817.3

p.P822P

c.2466G>A

3 papers

NM_022817.3

p.L823V

c.2467C>G

1 paper

NM_022817.3

p.A828T

c.2482G>A

1 paper

NM_022817.3

p.A853V

c.2558C>T

1 paper

NM_022817.3

p.A861V

c.2582C>T

7 papers

NM_022817.3

p.F876L

c.2626T>C

7 papers

NM_022817.3

p.F876L

c.2628C>G

7 papers

NM_022817.3

p.F876L

c.2628C>A

2 papers

NM_022817.3

p.V883M

c.2647G>A

9 papers

NM_022817.3

p.V903I

c.2707G>A