Varaico: Literature-Extracted Genetic Variants

Gene:PER3
Variant:p.G474S

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
2 papers
NM_001377275.1
p.G474S
c.1420G>A
Surrounding Variants
1 paper
NM_001377275.1
p.K471_N472insA
c.1411_1415ins3
1 paper
NM_001377275.1
p.F487L
c.1459T>C
1 paper
NM_001377275.1
p.F487L
c.1461C>A
1 paper
NM_001377275.1
p.F487L
c.1461C>G
1 paper
NM_001377275.1
p.G492_T493insC
c.1474_1478ins3
1 paper
NM_001377275.1
p.A504fs
c.1510_1511fs
1 paper
NM_001377275.1
p.A504V
c.1511C>T
1 paper
NM_001377275.1
p.S446S
c.1338T>C
1 paper
NM_001377275.1
p.A440T
c.1318G>A
1 paper
NM_001377275.1
p.E434E
c.1302G>A
1 paper
NM_001377275.1
p.Q433P
c.1298A>C
1 paper
NM_001377275.1
p.G431E
c.1292G>A
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