Varaico: Literature-Extracted Genetic Variants

PER1

252 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 131–190UCSCPeriod circadian protein homolog bHLH-like domain

Per3-like_PAS-Aaa 218–342UCSCPeriod circadian protein homolog 3-like, PAS-A domain

PAS_3aa 370–459UCSCPAS fold

Period_Caa 1032–1202UCSCPeriod circadian-like, C-terminal

Gene Aliases

HGNC Name

period circadian regulator 1

HGNC Alias Symbol

RIGUI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002616.3

p.A998T

c.2992G>A

Surrounding Variants

1 paper

NM_002616.3

p.G997R

c.2989G>C

1 paper

NM_002616.3

p.G997R

c.2989G>A

1 paper

NM_002616.3

p.V1000A

c.2999T>C

1 paper

NM_002616.3

p.R994H

c.2981G>A

1 paper

NM_002616.3

p.R994C

c.2980C>T

1 paper

NM_002616.3

p.P993S

c.2977C>T

1 paper

NM_002616.3

p.G1005W

c.3013G>T

2 papers

NM_002616.3

p.S1007G

c.3019A>G

1 paper

NM_002616.3

p.Q988P

c.2963A>C

1 paper

NM_002616.3

p.G1009fs

c.3025_3026fs

1 paper

NM_002616.3

p.G1009_P1010delFs

c.3025_3029del5

1 paper

NM_002616.3

p.P1012L

c.3035C>T