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

11 papers

NM_001486.4

p.E77G

c.230A>G

Surrounding Variants

1 paper

NM_001486.4

p.S76N

c.227G>A

2 papers

NM_001486.4

p.S76T

c.227G>C

2 papers

NM_001486.4

p.Y75N

c.223T>A

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