Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB4
Variant:p.E312D

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.E312D
c.936G>C
Surrounding Variants
1 paper
NM_004567.4
p.E312D
c.936G>T
2 papers
NM_004567.4
p.A329V
c.986C>T
1 paper
NM_004567.4
p.R277Q
c.830G>A
1 paper
NM_004567.4
p.D271Y
c.811G>T
1 paper
NM_004567.4
p.G270E
c.809G>A
1 paper
NM_004567.4
p.R250C
c.748C>T
3 papers
NM_004567.4
p.R237C
c.709C>T
1 paper
NM_004567.4
p.H233Y
c.697C>T
1 paper
NM_004567.4
p.G222G
c.666C>T
1 paper
NM_004567.4
p.R211Splc
c.632+15C>A
1 paper
NM_004567.4
p.S201A
c.601T>G
1 paper
NM_004567.4
p.R194L
c.581G>T
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