Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB2
Variant:p.D177N

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
2 papers
NM_006212.2
p.D177N
c.529G>A
Surrounding Variants
1 paper
NM_006212.2
p.Y178S
c.533A>C
1 paper
NM_006212.2
p.Y178F
c.533A>T
1 paper
NM_006212.2
p.K172R
c.515A>G
1 paper
NM_006212.2
p.K172E
c.514A>G
1 paper
NM_006212.2
p.D189G
c.566A>G
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.I164fs
c.490_491fs
3 papers
NM_006212.2
p.I164delFs
c.491delT
1 paper
NM_006212.2
p.I164fs
c.490_491fs
1 paper
NM_006212.2
p.D162A
c.485A>C
1 paper
NM_006212.2
p.S156A
c.466T>G
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