Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB3
Variant:p.K472Q

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
2 papers
NM_004566.4
p.K472Q
c.1414A>C
Surrounding Variants
1 paper
NM_004566.4
p.K472R
c.1415A>G
1 paper
NM_004566.4
p.K473R
c.1418A>G
1 paper
NM_004566.4
p.R475C
c.1423C>T
1 paper
NM_004566.4
p.A466G
c.1397C>G
1 paper
NM_004566.4
p.L465L
c.1393C>T
1 paper
NM_004566.4
p.T463A
c.1387A>G
1 paper
NM_004566.4
p.N460S
c.1379A>G
1 paper
NM_004566.4
p.P455P
c.1365G>T
1 paper
NM_004566.4
p.P455L
c.1364C>T
1 paper
NM_004566.4
p.K451R
c.1352A>G
1 paper
NM_004566.4
p.R443Q
c.1328G>A
1 paper
NM_004566.4
p.N435K
c.1305C>A
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