Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB4
Variant:p.S201A

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.S201A
c.601T>G
Surrounding Variants
1 paper
NM_004567.4
p.R194L
c.581G>T
1 paper
NM_004567.4
p.R211Splc
c.632+15C>A
1 paper
NM_004567.4
p.N181K
c.543C>G
1 paper
NM_004567.4
p.N181K
c.543C>A
1 paper
NM_004567.4
p.P177H
c.530C>A
1 paper
NM_004567.4
p.N168S
c.503A>G
1 paper
NM_004567.4
p.I165V
c.493A>G
1 paper
NM_004567.4
p.V164I
c.490G>A
1 paper
NM_004567.4
p.F142S
c.425T>C
1 paper
NM_004567.4
p.T140A
c.418A>G
1 paper
NM_004567.4
p.R137Q
c.410G>A
1 paper
NM_004567.4
p.G222G
c.666C>T
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