Varaico: Literature-Extracted Genetic Variants

PFKP

100 papers

RefSeq Summary

This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This g...

Pfam Domains

PFKaa 1–117UCSCPhosphofructokinase

PFKaa 26–333UCSCPhosphofructokinase

PFKaa 374–659UCSCPhosphofructokinase

PFKaa 562–748UCSCPhosphofructokinase

Gene Aliases

HGNC Name

phosphofructokinase, platelet

HGNC Alias Symbols

PFK-C; PFKF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002627.5

p.R48C

c.142C>T

Surrounding Variants

1 paper

NM_002627.5

p.R48H

c.143G>A

1 paper

NM_002627.5

p.R48L

c.143G>T

1 paper

NM_002627.5

p.M49L

c.145A>C

1 paper

NM_002627.5

p.M49L

c.145A>T

1 paper

NM_002627.5

p.I51V

c.151A>G

1 paper

NM_002627.5

p.Y58F

c.173A>T

1 paper

NM_002627.5

p.F59Y

c.176T>A

1 paper

NM_002627.5

p.E62K

c.184G>A