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

1 paper

NM_001486.4

p.T352I

c.1055C>T

Surrounding Variants

1 paper

NM_001486.4

p.G354A

c.1061G>C

1 paper

NM_001486.4

p.M344I

c.1032G>A

1 paper

NM_001486.4

p.M344I

c.1032G>C

1 paper

NM_001486.4

p.M344I

c.1032G>T

2 papers

NM_001486.4

p.T337A

c.1009A>G

1 paper

NM_001486.4

p.G334V

c.1001G>T

1 paper

NM_001486.4

p.V333F

c.997G>T

1 paper

NM_001486.4

p.V330M

c.988G>A

1 paper

NM_001486.4

p.K327T

c.980A>C

1 paper

NM_001486.4

p.K326T

c.977A>C

1 paper

NM_001486.4

p.L324L

c.972G>A

1 paper

NM_001486.4

p.S323Splc

c.968+1G>C