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

2 papers

NM_001486.4

p.Y75N

c.223T>A

Surrounding Variants

1 paper

NM_001486.4

p.S76N

c.227G>A

2 papers

NM_001486.4

p.S76T

c.227G>C

11 papers

NM_001486.4

p.E77G

c.230A>G

1 paper

NM_001486.4

p.T82P

c.244A>C

1 paper

NM_001486.4

p.M83I

c.249G>A

1 paper

NM_001486.4

p.M83I

c.249G>C

1 paper

NM_001486.4

p.M83I

c.249G>T

1 paper

NM_001486.4

p.V84V

c.252A>G

1 paper

NM_001486.4

p.V90delFs

c.270delT

1 paper

NM_001486.4

p.Q91K

c.271C>A

1 paper

NM_001486.4

p.T70S

c.208A>T

1 paper

NM_001486.4

p.G65E

c.194G>A