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.I45T

c.134T>C

Surrounding Variants

1 paper

NM_002591.4

p.G48D

c.143G>A

2 papers

NM_002591.4

p.Q39*

c.115C>T

1 paper

NM_002591.4

p.M60L

c.178A>C

1 paper

NM_002591.4

p.E62K

c.184G>A

1 paper

NM_002591.4

p.R28K

c.83G>A

1 paper

NM_002591.4

p.L23L

c.69A>G

1 paper

NM_002591.4

p.R68delFs

c.204delG

1 paper

NM_002591.4

p.G18E

c.53G>A

1 paper

NM_002591.4

p.D73E

c.219C>A

1 paper

NM_002591.4

p.D73E

c.219C>G

1 paper

NM_002591.4

p.A13T

c.37G>A

1 paper

NM_002591.4

p.G8C

c.22G>T