GCKR c.110T>A ;(p.L37Q)

Variant ID: 2-27720160-T-A

NM_001486.3(GCKR):c.110T>A;(p.L37Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 110T>A; Leu37Gln
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
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: L37Q
PubMed Link: 24879641
Variant Present in the following documents:
  • Main text
  • ddu269.pdf
  • supp_ddu269_ddu269supp.pdf
View BVdb publication page