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.R53H

c.158G>A

Surrounding Variants

2 papers

NM_004563.4

p.R53C

c.157C>T

1 paper

NM_004563.4

p.C55S

c.164G>C

1 paper

NM_004563.4

p.P57S

c.169C>T

1 paper

NM_004563.4

p.I60L

c.178A>C

1 paper

NM_004563.4

p.R45*

c.133C>T

1 paper

NM_004563.4

p.E69K

c.205G>A

2 papers

NM_004563.4

p.G35E

c.104G>A

1 paper

NM_004563.4

p.A72T

c.214G>A

1 paper

NM_004563.4

p.Q28L

c.83A>T

1 paper

NM_004563.4

p.G81S

c.241G>A

1 paper

NM_004563.4

p.C24S

c.71G>C

7 papers

NM_004563.4

p.S23*

c.68C>A