Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.K290N

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.K290N
c.870A>C
Surrounding Variants
1 paper
NM_000298.6
p.K290N
c.870A>T
1 paper
NM_000298.6
p.S292G
c.874A>G
2 papers
NM_000298.6
p.D293N
c.877G>A
1 paper
NM_000298.6
p.D293V
c.878A>T
4 papers
NM_000298.6
p.V294M
c.880G>A
1 paper
NM_000298.6
p.S286F
c.857C>T
5 papers
NM_000298.6
p.A295V
c.884C>T
4 papers
NM_000298.6
p.V283A
c.848T>C
2 papers
NM_000298.6
p.I282S
c.845T>G
1 paper
NM_000298.6
p.G279_I282delFs
c.835_844del10
1 paper
NM_000298.6
p.A300P
c.898G>C
1 paper
NM_000298.6
p.A300T
c.898G>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."