Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R518fs

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.R518fs
c.1552_1553fs
Surrounding Variants
2 papers
NM_000298.6
p.R518C
c.1552C>T
1 paper
NM_000298.6
p.R518S
c.1552C>A
4 papers
NM_000298.6
p.R518fs
c.1552_1553fs
1 paper
NM_000298.6
p.R518delFs
c.1553delC
1 paper
NM_000298.6
p.E519del1
c.1555_1556delTTC
1 paper
NM_000298.6
p.P514S
c.1540C>T
1 paper
NM_000298.6
p.F513I
c.1537T>A
4 papers
NM_000298.6
p.G511E
c.1532G>A
2 papers
NM_000298.6
p.G511R
c.1531G>C
2 papers
NM_000298.6
p.G511R
c.1531G>A
2 papers
NM_000298.6
p.W525*
c.1574G>A
1 paper
NM_000298.6
p.W525delFs
c.1573delA
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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."