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.P932L

c.2795C>T

Surrounding Variants

1 paper

NM_022817.3

p.F925Y

c.2774T>A

9 papers

NM_022817.3

p.V903I

c.2707G>A

2 papers

NM_022817.3

p.V883M

c.2647G>A

1 paper

NM_022817.3

p.R984C

c.2950C>T

2 papers

NM_022817.3

p.R984L

c.2951G>T

1 paper

NM_022817.3

p.S987*

c.2960C>A

7 papers

NM_022817.3

p.F876L

c.2628C>G

7 papers

NM_022817.3

p.F876L

c.2628C>A

1 paper

NM_022817.3

p.P988L

c.2963C>T

7 papers

NM_022817.3

p.F876L

c.2626T>C

1 paper

NM_022817.3

p.A861V

c.2582C>T

3 papers

NM_022817.3

p.M1007T

c.3020T>C