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.T119M

c.356C>T

Surrounding Variants

1 paper

NM_004563.4

p.V120I

c.358G>A

1 paper

NM_004563.4

p.R117W

c.349C>T

1 paper

NM_004563.4

p.P114A

c.340C>G

1 paper

NM_004563.4

p.Q130*

c.388C>T

1 paper

NM_004563.4

p.S107C

c.319A>T

1 paper

NM_004563.4

p.E106E

c.318G>A

1 paper

NM_004563.4

p.G132G

c.396C>A

1 paper

NM_004563.4

p.R104*

c.310C>T

1 paper

NM_004563.4

p.D139N

c.415G>A

1 paper

NM_004563.4

p.D98D

c.294C>T

1 paper

NM_004563.4

p.F140L

c.420C>G

1 paper

NM_004563.4

p.D98H

c.292G>C