Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB3
Variant:p.R25S

PFKFB3

89 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls ...

Pfam Domains

6PF2Kaa 24–246UCSC6-phosphofructo-2-kinase
His_Phos_1aa 249–435UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004566.4
p.R25S
c.75A>C
Surrounding Variants
1 paper
NM_004566.4
p.R25S
c.75A>T
1 paper
NM_004566.4
p.V17M
c.49G>A
1 paper
NM_004566.4
p.K12R
c.35A>G
1 paper
NM_004566.4
p.Q11*
c.31C>T
1 paper
NM_004566.4
p.V10V
c.30G>A
1 paper
NM_004566.4
p.P2R
c.5C>G
1 paper
NM_004566.4
p.P2S
c.4C>T
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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."