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.D40delFs

c.118delG

Surrounding Variants

2 papers

NM_001486.4

p.L37Q

c.110T>A

1 paper

NM_001486.4

p.D45delFs

c.133_134delGA

1 paper

NM_001486.4

p.K33M

c.98A>T

1 paper

NM_001486.4

p.E32*

c.94G>T

1 paper

NM_001486.4

p.P29Fs

c.86delinsCCFs

2 papers

NM_001486.4

p.R51G

c.151C>G

3 papers

NM_001486.4

p.R51*

c.151C>T

3 papers

NM_001486.4

p.R51Q

c.152G>A

1 paper

NM_001486.4

p.L53P

c.158T>C

1 paper

NM_001486.4

p.Q55H

c.165A>T

1 paper

NM_001486.4

p.C56W

c.168T>G

1 paper

NM_001486.4

p.D57_E64insFs

c.170_192dup23