Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB2
Variant:p.R102L

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.R102L
c.305G>T
Surrounding Variants
1 paper
NM_006212.2
p.R92W
c.274C>T
1 paper
NM_006212.2
p.D89E
c.267C>A
1 paper
NM_006212.2
p.D89E
c.267C>G
1 paper
NM_006212.2
p.D89A
c.266A>C
1 paper
NM_006212.2
p.R78L
c.233G>T
1 paper
NM_006212.2
p.G75G
c.225G>C
1 paper
NM_006212.2
p.G75E
c.224G>A
1 paper
NM_006212.2
p.V71Splc
c.212-57C>G
1 paper
NM_006212.2
p.T69I
c.206C>T
1 paper
NM_006212.2
p.D128N
c.382G>A
2 papers
NM_006212.2
p.D128A
c.383A>C
1 paper
NM_006212.2
p.T130A
c.388A>G
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