Varaico: Literature-Extracted Genetic Variants

Gene:PKM
Variant:p.K422R

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
Selected Variant
8 papers
NM_002654.6
p.K422R
c.1265A>G
Surrounding Variants
1 paper
NM_002654.6
p.C424S
c.1270T>A
1 paper
NM_002654.6
p.C424S
c.1271G>C
1 paper
NM_002654.6
p.A427V
c.1280C>T
1 paper
NM_002654.6
p.V417L
c.1249G>T
1 paper
NM_002654.6
p.V417L
c.1249G>C
1 paper
NM_002654.6
p.I428R
c.1283T>G
1 paper
NM_002654.6
p.A416P
c.1246G>C
7 papers
NM_002654.6
p.G415R
c.1243G>C
1 paper
NM_002654.6
p.V430A
c.1289T>C
1 paper
NM_002654.6
p.V414M
c.1240G>A
1 paper
NM_002654.6
p.L431R
c.1292T>G
1 paper
NM_002654.6
p.A413V
c.1238C>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."