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.I461I

c.1383C>A

Surrounding Variants

1 paper

NM_002627.5

p.W463C

c.1389G>C

1 paper

NM_002627.5

p.W463C

c.1389G>T

2 papers

NM_002627.5

p.G467A

c.1400G>C

1 paper

NM_002627.5

p.T470I

c.1409C>T

1 paper

NM_002627.5

p.S475S

c.1425C>T

1 paper

NM_002627.5

p.R481H

c.1442G>A

1 paper

NM_002627.5

p.R481L

c.1442G>T

1 paper

NM_002627.5

p.A492T

c.1474G>A

1 paper

NM_002627.5

p.Q494Q

c.1482G>A

1 paper

NM_002627.5

p.A502A

c.1506G>A

1 paper

NM_002627.5

p.Y512F

c.1535A>T

1 paper

NM_002627.5

p.E517K

c.1549G>A