Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.D543A

PFKM

133 papers

RefSeq Summary

Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation o...

Pfam Domains

PFKaa 17–324UCSCPhosphofructokinase
PFKaa 402–687UCSCPhosphofructokinase

Gene Aliases

HGNC Name

phosphofructokinase, muscle

HGNC Previous Symbol

PFKX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000289.6
p.D543A
c.1628A>C
Surrounding Variants
1 paper
NM_000289.6
p.T548A
c.1642A>G
1 paper
NM_000289.6
p.I496T
c.1487T>C
1 paper
NM_000289.6
p.K487Q
c.1459A>C
3 papers
NM_000289.6
p.R471Splc
c.1412+1G>T
1 paper
NM_000289.6
p.W459*
c.1376G>A
1 paper
NM_000289.6
p.V456A
c.1367T>C
1 paper
NM_000289.6
p.K557R
c.1670A>G
1 paper
NM_000289.6
p.R565H
c.1694G>A
1 paper
NM_000289.6
p.A587delFs
c.1761delA
1 paper
NM_000289.6
p.A588fs
c.1762_1763fs
1 paper
NM_000289.6
p.D591N
c.1771G>A
1 paper
NM_000289.6
p.D591A
c.1772A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."