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

1–12 of 161 variants

3 papers

NM_002627.5

p.E286K

c.856G>A

3 papers

NM_002627.5

p.V293I

c.877G>A

2 papers

NM_002627.5

p.R48C

c.142C>T

2 papers

NM_002627.5

p.D128G

c.383A>G

2 papers

NM_002627.5

p.R150R

c.448A>C

2 papers

NM_002627.5

p.R150S

c.450G>C

2 papers

NM_002627.5

p.N151N

c.453C>T

2 papers

NM_002627.5

p.G152G

c.456C>G

2 papers

NM_002627.5

p.Q153K

c.457C>A

2 papers

NM_002627.5

p.A158V

c.473C>T

2 papers

NM_002627.5

p.R381*

c.1141C>T

2 papers

NM_002627.5

p.A445T

c.1333G>A