Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB2

PFKFB2

84 papers

RefSeq Summary

The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a...

Pfam Domains

6PF2Kaa 26–249UCSC6-phosphofructo-2-kinase
His_Phos_1aa 252–438UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

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

Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
3 papers
NM_006212.2
p.I164delFs
c.491delT
2 papers
NM_006212.2
p.I65F
c.193A>T
2 papers
NM_006212.2
p.D128A
c.383A>C
2 papers
NM_006212.2
p.D177N
c.529G>A
2 papers
NM_006212.2
p.R496C
c.1486C>T
1 paper
NM_006212.2
p.G3E
c.8G>A
1 paper
NM_006212.2
p.S6_S7insFs
c.18_19insTT
1 paper
NM_006212.2
p.S29*
c.86C>A
1 paper
NM_006212.2
p.S29*
c.86C>G
1 paper
NM_006212.2
p.S29*
c.86C>G
1 paper
NM_006212.2
p.S32A
c.94T>G
1 paper
NM_006212.2
p.S37fs
c.109_110fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."