Varaico: Literature-Extracted Genetic Variants

Gene:PKM
Variant:p.S100A

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
4 papers
NM_002654.6
p.S100A
c.298T>G
Surrounding Variants
1 paper
NM_002654.6
p.S100P
c.298T>C
1 paper
NM_002654.6
p.S100S
c.300T>A
1 paper
NM_002654.6
p.D101N
c.301G>A
1 paper
NM_002654.6
p.E96K
c.286G>A
1 paper
NM_002654.6
p.L104P
c.311T>C
1 paper
NM_002654.6
p.T95A
c.283A>G
4 papers
NM_002654.6
p.Y105F
c.314A>T
2 papers
NM_002654.6
p.R106Q
c.317G>A
1 paper
NM_002654.6
p.P107H
c.320C>A
1 paper
NM_002654.6
p.V91delFs
c.271delC
1 paper
NM_002654.6
p.A111T
c.331G>A
1 paper
NM_002654.6
p.D113N
c.337G>A
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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."