Varaico: Literature-Extracted Genetic Variants

Gene:PKM
Variant:p.K305R

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
3 papers
NM_002654.6
p.K305R
c.914A>G
Surrounding Variants
9 papers
NM_002654.6
p.K305Q
c.913A>C
1 paper
NM_002654.6
p.E304*
c.910G>T
2 papers
NM_002654.6
p.E304K
c.910G>A
1 paper
NM_002654.6
p.A303T
c.907G>A
1 paper
NM_002654.6
p.P302S
c.904C>T
2 papers
NM_002654.6
p.Q310P
c.929A>C
1 paper
NM_002654.6
p.Q310H
c.930G>T
1 paper
NM_002654.6
p.M313K
c.938T>A
1 paper
NM_002654.6
p.D296N
c.886G>A
1 paper
NM_002654.6
p.G315R
c.943G>A
1 paper
NM_002654.6
p.R316W
c.946C>T
1 paper
NM_002654.6
p.R316L
c.947G>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."