Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.P255L

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.P255L
c.764C>T
Surrounding Variants
1 paper
NM_000298.6
p.L254F
c.762G>T
1 paper
NM_000298.6
p.L254F
c.762G>C
2 papers
NM_000298.6
p.L254L
c.760T>C
1 paper
NM_000298.6
p.N253S
c.758A>G
2 papers
NM_000298.6
p.G251S
c.751G>A
1 paper
NM_000298.6
p.R249W
c.745C>T
2 papers
NM_000298.6
p.G263R
c.787G>C
2 papers
NM_000298.6
p.G263R
c.787G>A
1 paper
NM_000298.6
p.N242_V245delFs
c.724_733del10
1 paper
NM_000298.6
p.V245I
c.733G>A
3 papers
NM_000298.6
p.E266K
c.796G>A
1 paper
NM_000298.6
p.G244G
c.732C>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."