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.G106R

c.316G>C

Surrounding Variants

1 paper

NM_001486.4

p.G106R

c.316G>A

1 paper

NM_001486.4

p.S105_G106insFs

c.315_316insC

2 papers

NM_001486.4

p.S105N

c.314G>A

1 paper

NM_001486.4

p.T109A

c.325A>G

21 papers

NM_001486.4

p.V103M

c.307G>A

2 papers

NM_001486.4

p.S110A

c.328T>G

1 paper

NM_001486.4

p.L101fs

c.301_302fs

1 paper

NM_001486.4

p.G100E

c.299G>A

2 papers

NM_001486.4

p.R112Q

c.335G>A

1 paper

NM_001486.4

p.D98D

c.294T>C

1 paper

NM_001486.4

p.G100insFs

c.300dupG

1 paper

NM_001486.4

p.A114T

c.340G>A