Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB2
Variant:p.R136S

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
Selected Variant
1 paper
NM_006212.2
p.R136S
c.408G>T
Surrounding Variants
1 paper
NM_006212.2
p.R136S
c.408G>C
1 paper
NM_006212.2
p.R136K
c.407G>A
1 paper
NM_006212.2
p.T130S
c.389C>G
1 paper
NM_006212.2
p.T130A
c.388A>G
1 paper
NM_006212.2
p.T130S
c.388A>T
2 papers
NM_006212.2
p.D128A
c.383A>C
1 paper
NM_006212.2
p.D128N
c.382G>A
1 paper
NM_006212.2
p.S156A
c.466T>G
1 paper
NM_006212.2
p.D162A
c.485A>C
1 paper
NM_006212.2
p.I164fs
c.490_491fs
3 papers
NM_006212.2
p.I164delFs
c.491delT
1 paper
NM_006212.2
p.I164fs
c.490_491fs
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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."