Varaico: Literature-Extracted Genetic Variants

PCK1

137 papers

RefSeq Summary

This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, wi...

Pfam Domains

PEPCK_Naa 29–256UCSCPhosphoenolpyruvate carboxykinase N-terminal domain

PEPCK_GTPaa 260–618UCSCPhosphoenolpyruvate carboxykinase C-terminal P-loop domain

Gene Aliases

HGNC Name

phosphoenolpyruvate carboxykinase 1

HGNC Alias Symbol

PEPCK-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002591.4

p.R175Q

c.524G>A

Surrounding Variants

1 paper

NM_002591.4

p.T174M

c.521C>T

1 paper

NM_002591.4

p.G177D

c.530G>A

1 paper

NM_002591.4

p.R171Q

c.512G>A

1 paper

NM_002591.4

p.R171W

c.511C>T

3 papers

NM_002591.4

p.V184L

c.550G>C

3 papers

NM_002591.4

p.V184L

c.550G>T

1 paper

NM_002591.4

p.V166M

c.496G>A

2 papers

NM_002591.4

p.D186N

c.556G>A

1 paper

NM_002591.4

p.S163L

c.488C>T

1 paper

NM_002591.4

p.C192R

c.574T>C

1 paper

NM_002591.4

p.I156I

c.468C>T

1 paper

NM_002591.4

p.S195F

c.584C>T