Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R273C

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.R273C
c.817C>T
Surrounding Variants
5 papers
NM_000298.6
p.L272V
c.814C>G
1 paper
NM_000298.6
p.F274L
c.822C>G
6 papers
NM_000298.6
p.G275R
c.823G>C
5 papers
NM_000298.6
p.G275R
c.823G>A
1 paper
NM_000298.6
p.R270P
c.809G>C
1 paper
NM_000298.6
p.V276insFs
c.826_827ins11
1 paper
NM_000298.6
p.V276ins4
c.826_827ins12
1 paper
NM_000298.6
p.V276M
c.826G>A
2 papers
NM_000298.6
p.R270*
c.808C>T
6 papers
NM_000298.6
p.V276delFs
c.826delC
2 papers
NM_000298.6
p.V276fs
c.826_827fs
6 papers
NM_000298.6
p.V269F
c.805G>T
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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."