CLOCK c.1183C>T ;(p.L395F)

Variant ID: 4-56319244-G-A

NM_004898.3(CLOCK):c.1183C>T;(p.L395F)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: CLOCK: 1183C>T; L395F
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs6855837
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



CLOCK Polymorphisms in Attention-Deficit/Hyperactivity Disorder (ADHD): Further Evidence Linking Sleep and Circadian Disturbances and ADHD.

Genes
Carpena, Marina Xavier MX; Hutz, Mara H MH; Salatino-Oliveira, Angélica A; Polanczyk, Guilherme V GV; Zeni, Cristian C; Schmitz, Marcelo M; Chazan, Rodrigo R; Genro, Julia P JP; Rohde, Luis Augusto LA; Tovo-Rodrigues, Luciana L
Publication Date: 2019-01-28

Variant appearance in text: rs6855837
PubMed Link: 30696097
Variant Present in the following documents:
  • Main text
  • genes-10-00088.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs6855837
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Study of five novel non-synonymous polymorphisms in human brain-expressed genes in a Colombian sample.

Annals Of Neurosciences
Ojeda, Diego A DA; Forero, Diego A DA
Publication Date: 2014-10

Variant appearance in text: rs6855837
PubMed Link: 25452674
Variant Present in the following documents:
  • ANS0972-7531-21-138.pdf
View BVdb publication page



Screening of clock gene polymorphisms demonstrates association of a PER3 polymorphism with morningness-eveningness preference and circadian rhythm sleep disorder.

Scientific Reports
Hida, Akiko A; Kitamura, Shingo S; Katayose, Yasuko Y; Kato, Mie M; Ono, Hiroko H; Kadotani, Hiroshi H; Uchiyama, Makoto M; Ebisawa, Takashi T; Inoue, Yuichi Y; Kamei, Yuichi Y; Okawa, Masako M; Takahashi, Kiyohisa K; Mishima, Kazuo K
Publication Date: 2014-09-09

Variant appearance in text: rs6855837
PubMed Link: 25201053
Variant Present in the following documents:
  • Main text
  • srep06309.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs6855837
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page