Varaico: Literature-Extracted Genetic Variants

Gene:PKLR

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
1–12 of 609 variants
92 papers
NM_000298.6
p.R486W
c.1456C>T
76 papers
NM_000298.6
p.R510Q
c.1529G>A
38 papers
NM_000298.6
p.R479H
c.1436G>A
25 papers
NM_000298.6
p.R490W
c.1468C>T
24 papers
NM_000298.6
p.E241*
c.721G>T
23 papers
NM_000298.6
p.R479H
c.1436G>A
21 papers
NM_000298.6
p.G332S
c.994G>A
15 papers
NM_000298.6
p.T384M
c.1151C>T
14 papers
NM_000298.6
p.I90N
c.269T>A
13 papers
NM_000298.6
p.E277K
c.829G>A
13 papers
NM_000298.6
p.N393S
c.1178A>G
12 papers
NM_000298.6
p.V506I
c.1516G>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."