Varaico: Literature-Extracted Genetic Variants

Gene:PKM

PKM

313 papers

RefSeq Summary

This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruv...

Pfam Domains

PKaa 116–449UCSCPyruvate kinase, barrel domain
PK_Caa 484–602UCSCPyruvate kinase, alpha/beta domain

Gene Aliases

HGNC Name

pyruvate kinase M1/2

HGNC Previous Symbol

PKM2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 253 variants
9 papers
NM_002654.6
p.K305Q
c.913A>C
9 papers
NM_002654.6
p.H391Y
c.1171C>T
8 papers
NM_002654.6
p.K422R
c.1265A>G
7 papers
NM_002654.6
p.S37A
c.109T>G
7 papers
NM_002654.6
p.G415R
c.1243G>C
6 papers
NM_002654.6
p.K433Q
c.1297A>C
5 papers
NM_002654.6
p.K433E
c.1297A>G
5 papers
NM_002654.6
p.S437Y
c.1310C>A
4 papers
NM_002654.6
p.S100A
c.298T>G
4 papers
NM_002654.6
p.Y105F
c.314A>T
3 papers
NM_002654.6
p.M1I
c.3G>C
3 papers
NM_002654.6
p.C31F
c.92G>T
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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."