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

5 papers

NM_001486.4

p.A519T

c.1555G>A

Surrounding Variants

1 paper

NM_001486.4

p.A519V

c.1556C>T

1 paper

NM_001486.4

p.R518Q

c.1553G>A

1 paper

NM_001486.4

p.R518W

c.1552C>T

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

1 paper

NM_001486.4

p.W517*

c.1550G>A

1 paper

NM_001486.4

p.W517R

c.1549T>A

1 paper

NM_001486.4

p.W517R

c.1549T>C

2 papers

NM_001486.4

p.D507A

c.1520A>C

1 paper

NM_001486.4

p.M505fs

c.1513_1514fs

1 paper

NM_001486.4

p.M505delFs

c.1513_1514delAT