Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB2
Variant:p.Q371H

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.Q371H
c.1113G>T
Surrounding Variants
1 paper
NM_006212.2
p.Q371H
c.1113G>C
1 paper
NM_006212.2
p.S365*
c.1094C>A
1 paper
NM_006212.2
p.S365*
c.1094C>G
1 paper
NM_006212.2
p.V394I
c.1180G>A
1 paper
NM_006212.2
p.E364_S365Splc
c.1092+8G>A
1 paper
NM_006212.2
p.E364_S365Splc
c.1092+7C>T
1 paper
NM_006212.2
p.T444M
c.1331C>T
1 paper
NM_006212.2
p.T450_N451Splc
c.1350+1G>T
1 paper
NM_006212.2
p.K455N
c.1365G>T
1 paper
NM_006212.2
p.R461K
c.1382G>A
1 paper
NM_006212.2
p.S473L
c.1418C>T
1 paper
NM_006212.2
p.S473S
c.1419G>A
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