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

Selected Variant

1 paper

NM_002625.4

p.G332V

c.995G>T

Surrounding Variants

1 paper

NM_002625.4

p.V318D

c.953T>A

2 papers

NM_002625.4

p.R279H

c.836G>A

1 paper

NM_002625.4

p.R279C

c.835C>T

1 paper

NM_002625.4

p.R269H

c.806G>A

1 paper

NM_002625.4

p.I254S

c.761T>G

2 papers

NM_002625.4

p.R239H

c.716G>A

1 paper

NM_002625.4

p.R239C

c.715C>T

1 paper

NM_002625.4

p.E366_S367Splc

c.1099-8A>T

1 paper

NM_002625.4

p.L405P

c.1214T>C

1 paper

NM_002625.4

p.D410Splc

c.1228+2T>C