Varaico: Literature-Extracted Genetic Variants

Gene:PKM
Variant:p.T45I

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
1 paper
NM_002654.6
p.T45I
c.134C>T
Surrounding Variants
1 paper
NM_002654.6
p.T45A
c.133A>G
1 paper
NM_002654.6
p.N44K
c.132C>G
NM_001206796.3
p.N118K
c.354C>G
1 paper
NM_001206796.3
p.N118K
c.354C>A
1 paper
NM_002654.6
p.R43P
c.128G>C
1 paper
NM_002654.6
p.T41A
c.121A>G
1 paper
NM_002654.6
p.T50I
c.149C>T
1 paper
NM_002654.6
p.T50_I51delFs
c.150_153del4
1 paper
NM_002654.6
p.P38S
c.112C>T
7 papers
NM_002654.6
p.S37A
c.109T>G
3 papers
NM_002654.6
p.S37P
c.109T>C
1 paper
NM_001206798.3
p.I52T
c.155T>C
1 paper
NM_002654.6
p.L33L
c.99G>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."