Varaico: Literature-Extracted Genetic Variants

PCK2

167 papers

RefSeq Summary

This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encod...

Pfam Domains

PEPCK_Naa 46–274UCSCPhosphoenolpyruvate carboxykinase N-terminal domain

PEPCK_GTPaa 278–636UCSCPhosphoenolpyruvate carboxykinase C-terminal P-loop domain

Gene Aliases

HGNC Name

phosphoenolpyruvate carboxykinase 2, mitochondrial

HGNC Alias Symbols

PEPCK; PEPCK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004563.4

p.A305T

c.913G>A

Surrounding Variants

1 paper

NM_004563.4

p.A305V

c.914C>T

1 paper

NM_004563.4

p.C306S

c.916T>A

1 paper

NM_004563.4

p.C306S

c.917G>C

1 paper

NM_004563.4

p.R315W

c.943C>T

2 papers

NM_004563.4

p.P316L

c.947C>T

1 paper

NM_004563.4

p.L318Q

c.953T>A

1 paper

NM_004563.4

p.W321insFs

c.961_962insG

1 paper

NM_004563.4

p.E324D

c.972G>C

1 paper

NM_004563.4

p.G339delFs

c.1015delG

1 paper

NM_004563.4

p.G339S

c.1015G>A

1 paper

NM_004563.4

p.R340*

c.1018C>T

1 paper

NM_004563.4

p.E281K

c.841G>A