NR0B2 c.160C>T ;(p.R54C)

Variant ID: 1-27240272-G-A

NM_021969.2(NR0B2):c.160C>T;(p.R54C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-06

Variant appearance in text: rs113654931
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: NR0B2: R54C; rs113654931
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Role of nuclear receptor SHP in metabolism and cancer.

Biochimica Et Biophysica Acta
Zhang, Yuxia Y; Hagedorn, Curt H CH; Wang, Li L
Publication Date: 2011-08

Variant appearance in text: SHP: 160C>T
PubMed Link: 20970497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel polymorphisms of nuclear receptor SHP associated with functional and structural changes.

The Journal Of Biological Chemistry
Zhou, Taofeng T; Zhang, Yuxia Y; Macchiarulo, Antonio A; Yang, Zhihong Z; Cellanetti, Marco M; Coto, Eliecer E; Xu, Pingyi P; Pellicciari, Roberto R; Wang, Li L
Publication Date: 2010-08-06

Variant appearance in text: SHP: R54C
PubMed Link: 20516075
Variant Present in the following documents:
  • Main text
View BVdb publication page