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.M505fs

c.1513_1514fs

Surrounding Variants

1 paper

NM_001486.4

p.M505delFs

c.1513_1514delAT

1 paper

NM_001486.4

p.N503S

c.1508A>G

2 papers

NM_001486.4

p.D507A

c.1520A>C

1 paper

NM_001486.4

p.I500S

c.1499T>G

1 paper

NM_001486.4

p.I500_Q502del3

c.1498_1505del9

1 paper

NM_001486.4

p.V495G

c.1484T>G

1 paper

NM_001486.4

p.W517R

c.1549T>A

1 paper

NM_001486.4

p.W517R

c.1549T>C

1 paper

NM_001486.4

p.W517*

c.1550G>A

1 paper

NM_001486.4

p.W517*

c.1551G>A

2 papers

NM_001486.4

p.W517C

c.1551G>C

2 papers

NM_001486.4

p.W517C

c.1551G>T