Varaico: Literature-Extracted Genetic Variants

GCKR

340 papers

RefSeq Summary

This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic ...

Pfam Domains

GKRP_SIS_Naa 85–195UCSCGlucokinase regulatory protein N-terminal SIS domain

GKRP_SIS_2aa 307–497UCSCGlucokinase regulatory protein, second SIS domain

GKRP-like_Caa 502–601UCSCC-terminal lid domain of glucokinase regulatory protein

Gene Aliases

HGNC Name

glucokinase regulator

HGNC Previous Name

glucokinase (hexokinase 4) regulatory protein

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001486.4

p.R301*

c.901C>T

Surrounding Variants

2 papers

NM_001486.4

p.E300A

c.899A>C

2 papers

NM_001486.4

p.E300K

c.898G>A

1 paper

NM_001486.4

p.R297Q

c.890G>A

1 paper

NM_001486.4

p.L296W

c.887T>G

1 paper

NM_001486.4

p.Y307D

c.919T>G

1 paper

NM_001486.4

p.C291C

c.873C>T

1 paper

NM_001486.4

p.A314S

c.940G>T

1 paper

NM_001486.4

p.T315_L316insC

c.943_947ins3

1 paper

NM_001486.4

p.V320insFs

c.959_960ins7

1 paper

NM_001486.4

p.S323Splc

c.968+1G>C

1 paper

NM_001486.4

p.L324L

c.972G>A

1 paper

NM_001486.4

p.K326T

c.977A>C