Varaico: Literature-Extracted Genetic Variants

PFKFB1

55 papers

RefSeq Summary

This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of ...

Pfam Domains

6PF2Kaa 30–251UCSC6-phosphofructo-2-kinase

His_Phos_1aa 254–440UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

HGNC Previous Symbol

PFRX

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

2 papers

NM_002625.4

p.R239H

c.716G>A

2 papers

NM_002625.4

p.R279H

c.836G>A

2 papers

NM_002625.4

p.H420P

c.1259A>C

1 paper

NM_002625.4

p.I16S

c.47T>G

1 paper

NM_002625.4

p.I18I

c.54T>C

1 paper

NM_002625.4

p.R26G

c.76A>G

1 paper

NM_002625.4

p.R30K

c.89G>A

1 paper

NM_002625.4

p.M47V

c.139A>G

1 paper

NM_002625.4

p.R53*

c.157C>T

1 paper

NM_002625.4

p.V75V

c.225G>C

1 paper

NM_002625.4

p.Y81*

c.243T>A

1 paper

NM_002625.4

p.R82*

c.244C>T