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.Q240_K241delFs

c.720_721delGA

Surrounding Variants

1 paper

NM_001486.4

p.K241*

c.721A>T

1 paper

NM_001486.4

p.K241fs

c.721_722fs

1 paper

NM_001486.4

p.K241K

c.723A>G

1 paper

NM_001486.4

p.A242fs

c.724_725fs

1 paper

NM_001486.4

p.A242insFs

c.726dupT

1 paper

NM_001486.4

p.V244G

c.731T>G

1 paper

NM_001486.4

p.V244insFs

c.732dupG

6 papers

NM_001486.4

p.Q234P

c.701A>C

1 paper

NM_001486.4

p.Q234*

c.700C>T

1 paper

NM_001486.4

p.P247L

c.740C>T

1 paper

NM_001486.4

p.R232Q

c.695G>A

1 paper

NM_001486.4

p.A248S

c.742G>T