Varaico: Literature-Extracted Genetic Variants

Gene:PER3
Variant:p.A653Splc

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.A653Splc
c.1957+2T>C
Surrounding Variants
11 papers
NM_016831.4
p.V639G
c.1916T>G
NM_001377275.1
p.V647G
c.1940T>G
1 paper
NM_001377275.1
p.G639V
c.1916G>T
1 paper
NM_001377275.1
p.G619A
c.1856G>C
1 paper
NM_001377275.1
p.G619fs
c.1855_1856fs
1 paper
NM_001377275.1
p.G618insFs
c.1853dupG
1 paper
NM_001377275.1
p.G617V
c.1850G>T
1 paper
NM_001377275.1
p.A595Splc
c.1784-2A>G
1 paper
NM_001377275.1
p.A595_G596insCT
c.1783_1787ins6
1 paper
NM_001377275.1
p.I568N
c.1703T>A
1 paper
NM_001377275.1
p.L555M
c.1663C>A
1 paper
NM_001377275.1
p.R553Splc
c.1658+1G>A
1 paper
NM_001377275.1
p.D549N
c.1645G>A
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