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.T379N

c.1136C>A

Surrounding Variants

2 papers

NM_001486.4

p.T379fs

c.1135_1136fs

1 paper

NM_001486.4

p.T379A

c.1135A>G

3 papers

NM_001486.4

p.T379fs

c.1135_1136fs

7 papers

NM_001486.4

p.T379insFs

c.1135dupA

1 paper

NM_001486.4

p.L378fs

c.1132_1133fs

1 paper

NM_001486.4

p.Q374H

c.1122G>C

1 paper

NM_001486.4

p.Q374H

c.1122G>T

1 paper

NM_001486.4

p.R361H

c.1082G>A

1 paper

NM_001486.4

p.R358Q

c.1073G>A

2 papers

NM_001486.4

p.R358*

c.1072C>T

1 paper

NM_001486.4

p.Q381_G382Splc

c.1144-1G>A

1 paper

NM_001486.4

p.P383T

c.1147C>A