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.P161L

c.482C>T

Surrounding Variants

1 paper

NM_004563.4

p.R155C

c.463C>T

2 papers

NM_004563.4

p.P170L

c.509C>T

1 paper

NM_004563.4

p.G154Splc

c.461-7T>C

1 paper

NM_004563.4

p.L178P

c.533T>C

1 paper

NM_004563.4

p.T179S

c.536C>G

1 paper

NM_004563.4

p.D180E

c.540C>G

1 paper

NM_004563.4

p.A182P

c.544G>C

4 papers

NM_004563.4

p.R193*

c.577C>T

1 paper

NM_004563.4

p.G154Splc

c.460+1G>A

1 paper

NM_004563.4

p.Q153_G154insFs

c.459_460insA

2 papers

NM_004563.4

p.Q153fs

c.457_458fs

1 paper

NM_004563.4

p.Q153delFs

c.457delC