GCKR c.1828_1829delinsGC ;(p.Q610A)

Variant ID: 2-27746256-CA-GC

NM_001486.3(GCKR):c.1828_1829delinsGC;(p.Q610A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: Gln610Ala
PubMed Link: 22182842
Variant Present in the following documents:
  • Main text
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