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

4 papers

NM_002591.4

p.I267V

c.799A>G

Surrounding Variants

1 paper

NM_002591.4

p.E274K

c.820G>A

1 paper

NM_002591.4

p.G275delFs

c.824delG

2 papers

NM_002591.4

p.G275fs

c.823_824fs

2 papers

NM_002591.4

p.E276K

c.826G>A

1 paper

NM_002591.4

p.P285A

c.853C>G

1 paper

NM_002591.4

p.A287T

c.859G>A

1 paper

NM_002591.4

p.C288C

c.864C>T

1 paper

NM_002591.4

p.L293P

c.878T>C

1 paper

NM_002591.4

p.M295I

c.885G>A

1 paper

NM_002591.4

p.M295I

c.885G>C

1 paper

NM_002591.4

p.M295I

c.885G>T

1 paper

NM_002591.4

p.M296R

c.887T>G