Varaico: Literature-Extracted Genetic Variants

Gene:PER3
Variant:p.P1012L

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.P1012L
c.3035C>T
Surrounding Variants
1 paper
NM_001377275.1
p.H1011_P1012insFs
c.3033_3034insG
2 papers
NM_001377275.1
p.S1010F
c.3029C>T
12 papers
NM_001377275.1
p.A1016T
c.3046G>A
NM_016831.4
p.A1007T
c.3019G>A
7 papers
NM_001377275.1
p.K1007E
c.3019A>G
6 papers
NM_001377275.1
p.M1006R
c.3017T>G
3 papers
NM_001377275.1
p.T1019I
c.3056C>T
2 papers
NM_001377275.1
p.T1019T
c.3057A>G
5 papers
NM_001377275.1
p.S1021L
c.3062C>T
1 paper
NM_001377275.1
p.N990fs
c.2968_2969fs
1 paper
NM_001377275.1
p.E989fs
c.2965_2966fs
1 paper
NM_001377275.1
p.R988G
c.2962A>G
4 papers
NM_001377275.1
p.R988_T1001del14
c.2962_3002del42
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