GCKR c.1242C>G ;(p.D414E)

Variant ID: 2-27730845-C-G

NM_001486.3(GCKR):c.1242C>G;(p.D414E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: D414E
PubMed Link: 24879641
Variant Present in the following documents:
  • Main text
  • ddu269.pdf
  • supp_ddu269_ddu269supp.pdf
View BVdb publication page