Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB2
Variant:p.S32A

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.S32A
c.94T>G
Surrounding Variants
1 paper
NM_006212.2
p.S29*
c.86C>G
1 paper
NM_006212.2
p.S37fs
c.109_110fs
1 paper
NM_006212.2
p.P38L
c.113C>T
1 paper
NM_006212.2
p.I41I
c.123C>T
1 paper
NM_006212.2
p.T52A
c.154A>G
1 paper
NM_006212.2
p.L58R
c.173T>G
1 paper
NM_006212.2
p.R60H
c.179G>A
1 paper
NM_006212.2
p.W64*
c.191G>A
2 papers
NM_006212.2
p.I65F
c.193A>T
1 paper
NM_006212.2
p.T69I
c.206C>T
1 paper
NM_006212.2
p.V71Splc
c.212-57C>G
1 paper
NM_006212.2
p.G75E
c.224G>A
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