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

2 papers

NM_004563.4

p.L236insFs

c.707_708insA

Surrounding Variants

1 paper

NM_004563.4

p.L236Fs

c.708delinsAAFs

5 papers

NM_004563.4

p.R244W

c.730C>T

1 paper

NM_004563.4

p.R244Q

c.731G>A

1 paper

NM_004563.4

p.F249F

c.747C>T

2 papers

NM_004563.4

p.G260R

c.778G>C

1 paper

NM_004563.4

p.R267C

c.799C>T

2 papers

NM_004563.4

p.I268V

c.802A>G

2 papers

NM_004563.4

p.R271Q

c.812G>A

1 paper

NM_004563.4

p.E281K

c.841G>A

2 papers

NM_004563.4

p.G215D

c.644G>A

1 paper

NM_004563.4

p.L211L

c.633G>C

1 paper

NM_004563.4

p.D206N

c.616G>A