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

3 papers

NM_001486.4

p.L446R

c.1337T>G

Surrounding Variants

115 papers

NM_001486.4

p.L446P

c.1337T>C

2 papers

NM_001486.4

p.H438Y

c.1312C>T

3 papers

NM_001486.4

p.N431H

c.1291A>C

1 paper

NM_001486.4

p.V423A

c.1268T>C

1 paper

NM_001486.4

p.K450T

c.1349A>C

1 paper

NM_001486.4

p.K451T

c.1352A>C

1 paper

NM_001486.4

p.D414E

c.1242C>A

1 paper

NM_001486.4

p.D414E

c.1242C>G

2 papers

NM_001486.4

p.T411A

c.1231A>G

1 paper

NM_001486.4

p.I403I

c.1209C>A

1 paper

NM_001486.4

p.T401T

c.1203G>A

1 paper

NM_001486.4

p.I396N

c.1187T>A