Varaico: Literature-Extracted Genetic Variants

PCK1

137 papers

RefSeq Summary

This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, wi...

Pfam Domains

PEPCK_Naa 29–256UCSCPhosphoenolpyruvate carboxykinase N-terminal domain

PEPCK_GTPaa 260–618UCSCPhosphoenolpyruvate carboxykinase C-terminal P-loop domain

Gene Aliases

HGNC Name

phosphoenolpyruvate carboxykinase 1

HGNC Alias Symbol

PEPCK-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002591.4

p.A319T

c.955G>A

Surrounding Variants

1 paper

NM_002591.4

p.G321C

c.961G>T

3 papers

NM_002591.4

p.G321Splc

c.961+1G>A

1 paper

NM_002591.4

p.G321Splc

c.961+2T>C

1 paper

NM_002591.4

p.W314*

c.942G>A

12 papers

NM_002591.4

p.G309R

c.925G>A

11 papers

NM_002591.4

p.G309R

c.925G>C

1 paper

NM_002591.4

p.V308I

c.922G>A

1 paper

NM_002591.4

p.G302E

c.905G>A

1 paper

NM_002591.4

p.G302R

c.904G>A

1 paper

NM_002591.4

p.G302R

c.904G>C

1 paper

NM_002591.4

p.L300F

c.898C>T

1 paper

NM_002591.4

p.P298S

c.892C>T