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.R51W

c.151C>T

Surrounding Variants

1 paper

NM_022817.3

p.D60N

c.178G>A

1 paper

NM_022817.3

p.S61N

c.182G>A

1 paper

NM_022817.3

p.S39S

c.117T>C

11 papers

NM_022817.3

p.G37G

c.111C>G

1 paper

NM_022817.3

p.E70fs

c.208_209fs

1 paper

NM_022817.3

p.P72L

c.215C>T

1 paper

NM_022817.3

p.E17D

c.51G>T

1 paper

NM_022817.3

p.E17D

c.51G>C

1 paper

NM_022817.3

p.A5S

c.13G>T

2 papers

NM_022817.3

p.Y4*

c.12C>G

1 paper

NM_022817.3

p.M1insFs

c.1_2insGA

1 paper

NM_022817.3

p.L83R

c.248T>G