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

1 paper

NM_002627.5

p.I331N

c.992T>A

Surrounding Variants

1 paper

NM_002627.5

p.A332T

c.994G>A

1 paper

NM_002627.5

p.E328V

c.983A>T

1 paper

NM_002627.5

p.A342V

c.1025C>T

1 paper

NM_002627.5

p.N350delFs

c.1048delA

1 paper

NM_002627.5

p.L321_A322Splc

c.964-77G>A

1 paper

NM_002627.5

p.V308M

c.922G>A

1 paper

NM_002627.5

p.R301H

c.902G>A

1 paper

NM_002627.5

p.G297V

c.890G>T

3 papers

NM_002627.5

p.V293I

c.877G>A

1 paper

NM_002627.5

p.E286V

c.857A>T

3 papers

NM_002627.5

p.E286K

c.856G>A

1 paper

NM_002627.5

p.I270V

c.808A>G