Varaico: Literature-Extracted Genetic Variants

Gene:PER3
Variant:p.E1132K

PER3

192 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 48–105UCSCPeriod circadian protein homolog bHLH-like domain
bHLH_PERaa 48–105UCSCPeriod circadian protein homolog bHLH-like domain
Per3-like_PAS-Aaa 131–256UCSCPeriod circadian protein homolog 3-like, PAS-A domain
Per3-like_PAS-Aaa 131–256UCSCPeriod circadian protein homolog 3-like, PAS-A domain
PAS_3aa 284–374UCSCPAS fold
PAS_3aa 284–374UCSCPAS fold

Gene Aliases

HGNC Name

period circadian regulator 3

HGNC Previous Names

period (Drosophila) homolog 3; period homolog 3 (Drosophila); period circadian clock 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001377275.1
p.E1132K
c.3394G>A
Surrounding Variants
1 paper
NM_001377275.1
p.E1132Q
c.3394G>C
1 paper
NM_001377275.1
p.E1132G
c.3395A>G
2 papers
NM_001377275.1
p.L1125P
c.3374T>C
1 paper
NM_001377275.1
p.E1122Q
c.3364G>C
1 paper
NM_001377275.1
p.T1120I
c.3359C>T
1 paper
NM_001377275.1
p.R1118W
c.3352C>T
1 paper
NM_001377275.1
p.M1116I
c.3348G>A
1 paper
NM_001377275.1
p.M1116I
c.3348G>C
1 paper
NM_001377275.1
p.M1116I
c.3348G>T
1 paper
NM_001377275.1
p.P1112L
c.3335C>T
2 papers
NM_001377275.1
p.A1109V
c.3326C>T
1 paper
NM_001377275.1
p.G1093R
c.3277G>A
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