Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB3
Variant:p.K284R

PFKFB3

89 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls ...

Pfam Domains

6PF2Kaa 24–246UCSC6-phosphofructo-2-kinase
His_Phos_1aa 249–435UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004566.4
p.K284R
c.851A>G
Surrounding Variants
1 paper
NM_004566.4
p.K284E
c.850A>G
1 paper
NM_004566.4
p.R295C
c.883C>T
1 paper
NM_004566.4
p.R295R
c.885C>T
1 paper
NM_004566.4
p.K302R
c.905A>G
1 paper
NM_004566.4
p.I305I
c.915C>T
1 paper
NM_004566.4
p.Y315Y
c.945C>T
1 paper
NM_004566.4
p.A326A
c.978G>A
1 paper
NM_004566.4
p.A346V
c.1037C>T
1 paper
NM_004566.4
p.G255D
c.764G>A
1 paper
NM_004566.4
p.C252Y
c.755G>A
1 paper
NM_004566.4
p.P246A
c.736C>G
1 paper
NM_004566.4
p.I242V
c.724A>G
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