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.E105D

c.315A>T

Surrounding Variants

1 paper

NM_002627.5

p.R104Q

c.311G>A

1 paper

NM_002627.5

p.R102H

c.305G>A

1 paper

NM_002627.5

p.F101F

c.303C>T

1 paper

NM_002627.5

p.N113K

c.339C>A

1 paper

NM_002627.5

p.N113K

c.339C>G

1 paper

NM_002627.5

p.G94D

c.281G>A

1 paper

NM_002627.5

p.T120I

c.359C>T

2 papers

NM_002627.5

p.D128G

c.383A>G

1 paper

NM_002627.5

p.G129W

c.385G>T

1 paper

NM_002627.5

p.L131I

c.391C>A

1 paper

NM_002627.5

p.F137L

c.409T>C

1 paper

NM_002627.5

p.R138L

c.413G>T