GCKR c.152G>A ;(p.R51Q)

Variant ID: 2-27720202-G-A

NM_001486.3(GCKR):c.152G>A;(p.R51Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Association between Genotype and the Glycemic Response to an Oral Glucose Tolerance Test: A Systematic Review.

Nutrients
Bayer, Sandra S; Reik, Anna A; von Hesler, Lena L; Hauner, Hans H; Holzapfel, Christina C
Publication Date: 2023-03-30

Variant appearance in text: GCKR: Arg51Gln
PubMed Link: 37049537
Variant Present in the following documents:
  • nutrients-15-01695.pdf
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: GCKR: R51Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: GCKR: 152G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: GCKR: 152G>A; Arg51Gln
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: GCKR: R51Q
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 24
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: rs148289865
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.

Human Molecular Genetics
Rees, Matthew G MG; Raimondo, Anne A; Wang, Jian J; Ban, Matthew R MR; Davis, Mindy I MI; Barrett, Amy A; Ranft, Jessica J; Jagdhuhn, David D; Waterstradt, Rica R; Baltrusch, Simone S; Simeonov, Anton A; Collins, Francis S FS; Hegele, Robert A RA; Gloyn, Anna L AL
Publication Date: 2014-10-15

Variant appearance in text: GCKR: R51Q
PubMed Link: 24879641
Variant Present in the following documents:
  • Main text
  • supp_ddu269_ddu269supp.pdf
  • ddu269.pdf
View BVdb publication page



Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

The Journal Of Clinical Investigation
Rees, Matthew G MG; Ng, David D; Ruppert, Sarah S; Turner, Clesson C; Beer, Nicola L NL; Swift, Amy J AJ; Morken, Mario A MA; Below, Jennifer E JE; Blech, Ilana I; , ; Mullikin, James C JC; McCarthy, Mark I MI; Biesecker, Leslie G LG; Gloyn, Anna L AL; Collins, Francis S FS
Publication Date: 2012-01

Variant appearance in text: GCKR: Arg51Gln
PubMed Link: 22182842
Variant Present in the following documents:
  • Main text
View BVdb publication page