Varaico: Literature-Extracted Genetic Variants

Gene:PER3
Variant:p.V858I

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.V858I
c.2572G>A
Surrounding Variants
11 papers
NM_001377275.1
p.P864A
c.2590C>G
9 papers
NM_016831.4
p.L827P
c.2480T>C
NM_001377275.1
p.L835P
c.2504T>C
1 paper
NM_001377275.1
p.A881fs
c.2641_2642fs
1 paper
NM_001377275.1
p.A881delFs
c.2642delC
1 paper
NM_001377275.1
p.S892S
c.2676G>A
1 paper
NM_001377275.1
p.G819E
c.2456G>A
1 paper
NM_001377275.1
p.P901L
c.2702C>T
1 paper
NM_001377275.1
p.L812P
c.2435T>C
1 paper
NM_001377275.1
p.A803S
c.2407G>T
1 paper
NM_001377275.1
p.P923P
c.2769G>A
3 papers
NM_001377275.1
p.S927L
c.2780C>T
1 paper
NM_001377275.1
p.P786fs
c.2356_2357fs
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