Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB4
Variant:p.V452A

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.V452A
c.1355T>C
Surrounding Variants
2 papers
NM_004567.4
p.V452L
c.1354G>T
2 papers
NM_004567.4
p.V452L
c.1354G>C
1 paper
NM_004567.4
p.Q469R
c.1406A>G
1 paper
NM_004567.4
p.Q450_N451Splc
c.1350+29G>A
1 paper
NM_004567.4
p.Y428H
c.1282T>C
1 paper
NM_004567.4
p.H418Y
c.1252C>T
1 paper
NM_004567.4
p.L417R
c.1250T>G
1 paper
NM_004567.4
p.C415Y
c.1244G>A
1 paper
NM_004567.4
p.K414E
c.1240A>G
1 paper
NM_004567.4
p.L403L
c.1209C>G
1 paper
NM_004567.4
p.V394M
c.1180G>A
1 paper
NM_004567.4
p.E384D
c.1152G>T
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