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

1–12 of 112 variants

7 papers

NM_004563.4

p.S23*

c.68C>A

7 papers

NM_004563.4

p.S23*

c.68C>G

5 papers

NM_004563.4

p.R244W

c.730C>T

4 papers

NM_004563.4

p.R193*

c.577C>T

3 papers

NM_004563.4

p.R96H

c.287G>A

2 papers

NM_004563.4

p.G35E

c.104G>A

2 papers

NM_004563.4

p.R53C

c.157C>T

2 papers

NM_004563.4

p.Q153fs

c.457_458fs

2 papers

NM_004563.4

p.P170L

c.509C>T

2 papers

NM_004563.4

p.G215D

c.644G>A

2 papers

NM_004563.4

p.L236insFs

c.707_708insA

2 papers

NM_004563.4

p.G260R

c.778G>C