OR2A12 c.835C>T ;(p.L279F)

Variant ID: 7-143793035-C-T

NM_001004135.1(OR2A12):c.835C>T;(p.L279F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The genomic landscape of pediatric renal cell carcinomas.

Iscience
Beck, Pengbo P; Selle, Barbara B; Madenach, Lukas L; Jones, David T W DTW; Vokuhl, Christian C; Gopisetty, Apurva A; Nabbi, Arash A; Brecht, Ines B IB; Ebinger, Martin M; Wegert, Jenny J; Graf, Norbert N; Gessler, Manfred M; Pfister, Stefan M SM; Jäger, Natalie N
Publication Date: 2022-04-15

Variant appearance in text: OR2A12: L279F; rs80128486
PubMed Link: 35445187
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology
Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A
Publication Date: 2021-02-05

Variant appearance in text: OR2A12: 835C>T; Leu279Phe; rs80128486
PubMed Link: 33546694
Variant Present in the following documents:
  • 12915_2021_962_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variants affecting equivalent protein family positions reflect human diversity.

Scientific Reports
Raimondi, Francesco F; Betts, Matthew J MJ; Lu, Qianhao Q; Inoue, Asuka A; Gutkind, J Silvio JS; Russell, Robert B RB
Publication Date: 2017-10-06

Variant appearance in text: OR2A12: L279F
PubMed Link: 28986545
Variant Present in the following documents:
  • 41598_2017_12971_MOESM2_ESM.xlsx, sheet 13
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: OR2A12: L279F; rs80128486
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs80128486
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page