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.A445T

c.1333G>A

Surrounding Variants

1 paper

NM_002627.5

p.G440D

c.1319G>A

1 paper

NM_002627.5

p.G440_H441insG

c.1318_1322ins3

1 paper

NM_002627.5

p.N426S

c.1277A>G

1 paper

NM_002627.5

p.A414D

c.1241C>A

1 paper

NM_002627.5

p.P407S

c.1219C>T

1 paper

NM_002627.5

p.K395R

c.1184A>G

1 paper

NM_002627.5

p.T393I

c.1178C>T

1 paper

NM_002627.5

p.N390I

c.1169A>T

1 paper

NM_002627.5

p.R385M

c.1154G>T

1 paper

NM_002627.5

p.R383P

c.1148G>C

2 papers

NM_002627.5

p.R381*

c.1141C>T

1 paper

NM_002627.5

p.I461I

c.1383C>A