Varaico: Literature-Extracted Genetic Variants

Gene:PKM
Variant:p.L394*

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.L394*
c.1181T>A
Surrounding Variants
1 paper
NM_002654.6
p.L394*
c.1181T>G
3 papers
NM_002654.6
p.Q393K
c.1177C>A
1 paper
NM_002654.6
p.L392F
c.1176G>T
1 paper
NM_002654.6
p.L394_F395del2
c.1180_1184del6
1 paper
NM_002654.6
p.L392L
c.1174T>C
1 paper
NM_002654.6
p.H391H
c.1173C>T
1 paper
NM_002654.6
p.H391R
c.1172A>G
1 paper
NM_002654.6
p.E397A
c.1190A>C
9 papers
NM_002654.6
p.H391Y
c.1171C>T
1 paper
NM_002654.6
p.Y390Y
c.1170C>T
1 paper
NM_002654.6
p.R400H
c.1199G>A
2 papers
NM_002654.6
p.A402T
c.1204G>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."