Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.D400E

PKLR

384 papers

RefSeq Summary

The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in t...

Pfam Domains

PKaa 85–418UCSCPyruvate kinase, barrel domain
PK_Caa 453–571UCSCPyruvate kinase, alpha/beta domain

Gene Aliases

HGNC Name

pyruvate kinase L/R

HGNC Previous Name

pyruvate kinase, liver and RBC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000298.6
p.D400E
c.1200C>A
Surrounding Variants
1 paper
NM_000298.6
p.G398A
c.1193G>C
1 paper
NM_000298.6
p.M403T
c.1208T>C
1 paper
NM_000298.6
p.M403I
c.1209G>T
1 paper
NM_000298.6
p.M403I
c.1209G>C
1 paper
NM_000298.6
p.M403I
c.1209G>A
3 papers
NM_000298.6
p.D397V
c.1190A>T
2 papers
NM_000298.6
p.G406R
c.1216G>C
2 papers
NM_000298.6
p.G406R
c.1216G>A
1 paper
NM_000298.6
p.V395L
c.1183G>T
1 paper
NM_000298.6
p.V395L
c.1183G>C
4 papers
NM_000298.6
p.E407K
c.1219G>A
1 paper
NM_000298.6
p.A394D
c.1181C>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."