Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB4
Variant:p.E72Splc

PFKFB4

64 papers

RefSeq Summary

The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is ...

Pfam Domains

6PF2Kaa 28–249UCSC6-phosphofructo-2-kinase
His_Phos_1aa 252–438UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004567.4
p.E72Splc
c.215-15T>G
Surrounding Variants
1 paper
NM_004567.4
p.E72D
c.216G>T
1 paper
NM_004567.4
p.E72D
c.216G>C
1 paper
NM_004567.4
p.R103K
c.308G>A
1 paper
NM_004567.4
p.P69L
c.206C>T
1 paper
NM_004567.4
p.G67D
c.200G>A
1 paper
NM_004567.4
p.L47Q
c.140T>A
1 paper
NM_004567.4
p.P39T
c.115C>A
1 paper
NM_004567.4
p.V33G
c.98T>G
1 paper
NM_004567.4
p.A126V
c.377C>T
2 papers
NM_004567.4
p.Y19H
c.55T>C
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