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

1–12 of 147 variants

12 papers

NM_002591.4

p.G309R

c.925G>A

11 papers

NM_002591.4

p.G309R

c.925G>C

4 papers

NM_002591.4

p.T92M

c.275C>T

4 papers

NM_002591.4

p.I267V

c.799A>G

3 papers

NM_002591.4

p.I45T

c.134T>C

3 papers

NM_002591.4

p.R137H

c.410G>A

3 papers

NM_002591.4

p.M139L

c.415A>C

3 papers

NM_002591.4

p.M139L

c.415A>T

3 papers

NM_002591.4

p.V184L

c.550G>C

3 papers

NM_002591.4

p.V184L

c.550G>T

3 papers

NM_002591.4

p.G321Splc

c.961+1G>A

2 papers

NM_002591.4

p.Q39*

c.115C>T