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.Y512F

c.1535A>T

Surrounding Variants

1 paper

NM_002627.5

p.E517K

c.1549G>A

1 paper

NM_002627.5

p.A521T

c.1561G>A

2 papers

NM_002627.5

p.E526G

c.1577A>G

2 papers

NM_002627.5

p.A537S

c.1609G>T

1 paper

NM_002627.5

p.S546S

c.1638C>G

1 paper

NM_002627.5

p.F548S

c.1643T>C

1 paper

NM_002627.5

p.D561_T562Splc

c.1683+1G>A

1 paper

NM_002627.5

p.A502A

c.1506G>A

1 paper

NM_002627.5

p.Q494Q

c.1482G>A

1 paper

NM_002627.5

p.A492T

c.1474G>A

1 paper

NM_002627.5

p.R481H

c.1442G>A

1 paper

NM_002627.5

p.R481L

c.1442G>T