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.E123D

c.369G>T

Surrounding Variants

1 paper

NM_002591.4

p.E123G

c.368A>G

1 paper

NM_002591.4

p.R115R

c.345C>T

1 paper

NM_002591.4

p.C133S

c.397T>A

1 paper

NM_002591.4

p.C133S

c.398G>C

1 paper

NM_002591.4

p.C133C

c.399C>T

1 paper

NM_002591.4

p.G109A

c.326G>C

1 paper

NM_002591.4

p.K107*

c.319A>T

2 papers

NM_002591.4

p.V95I

c.283G>A

4 papers

NM_002591.4

p.T92M

c.275C>T

2 papers

NM_002591.4

p.K91R

c.272A>G

2 papers

NM_002591.4

p.E89K

c.265G>A

1 paper

NM_002591.4

p.D84N

c.250G>A