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.L548_S549del2

c.1642_1646del6

Surrounding Variants

1 paper

NM_001486.4

p.F544_P545ins5

c.1630_1634ins15

2 papers

NM_001486.4

p.R553W

c.1657C>T

3 papers

NM_001486.4

p.R540Q

c.1619G>A

10 papers

NM_001486.4

p.R540*

c.1618C>T

1 paper

NM_001486.4

p.L539F

c.1615C>T

1 paper

NM_001486.4

p.L538R

c.1613T>G

1 paper

NM_001486.4

p.E536G

c.1607A>G

1 paper

NM_001486.4

p.R525Q

c.1574G>A

1 paper

NM_001486.4

p.Q569*

c.1705C>T

2 papers

NM_001486.4

p.E586*

c.1756G>T

5 papers

NM_001486.4

p.H590Y

c.1768C>T

2 papers

NM_001486.4

p.G607E

c.1820G>A