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

3 papers

NM_002591.4

p.R137H

c.410G>A

Surrounding Variants

1 paper

NM_002591.4

p.T138I

c.413C>T

3 papers

NM_002591.4

p.M139L

c.415A>C

3 papers

NM_002591.4

p.M139L

c.415A>T

1 paper

NM_002591.4

p.Y140delFs

c.419delA

1 paper

NM_002591.4

p.P143Q

c.428C>A

1 paper

NM_002591.4

p.F144S

c.431T>C

1 paper

NM_002591.4

p.G147_P148delFs

c.440_444del5

1 paper

NM_002591.4

p.P148S

c.442C>T

2 papers

NM_002591.4

p.S151L

c.452C>T

1 paper

NM_002591.4

p.I156I

c.468C>T

1 paper

NM_002591.4

p.S163L

c.488C>T

1 paper

NM_002591.4

p.V166M

c.496G>A