Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB2
Variant:p.R250C

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.R250C
c.748C>T
Surrounding Variants
1 paper
NM_006212.2
p.R250L
c.749G>T
1 paper
NM_006212.2
p.V247F
c.739G>T
1 paper
NM_006212.2
p.E261A
c.782A>C
1 paper
NM_006212.2
p.I294M
c.882A>G
1 paper
NM_006212.2
p.S313A
c.937T>G
1 paper
NM_006212.2
p.V316A
c.947T>C
1 paper
NM_006212.2
p.P317L
c.950C>T
1 paper
NM_006212.2
p.E364_S365Splc
c.1092+7C>T
1 paper
NM_006212.2
p.E364_S365Splc
c.1092+8G>A
1 paper
NM_006212.2
p.Y197S
c.590A>C
1 paper
NM_006212.2
p.Y197F
c.590A>T
1 paper
NM_006212.2
p.D189G
c.566A>G
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