Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R270*

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
2 papers
NM_000298.6
p.R270*
c.808C>T
Surrounding Variants
1 paper
NM_000298.6
p.R270P
c.809G>C
6 papers
NM_000298.6
p.V269F
c.805G>T
1 paper
NM_000298.6
p.V269I
c.805G>A
1 paper
NM_000298.6
p.D268E
c.804C>G
1 paper
NM_000298.6
p.D268E
c.804C>A
2 papers
NM_000298.6
p.D268H
c.802G>C
5 papers
NM_000298.6
p.L272V
c.814C>G
1 paper
NM_000298.6
p.D268fs
c.802_803fs
1 paper
NM_000298.6
p.Q267_D268insFs
c.801_802insA
2 papers
NM_000298.6
p.Q267*
c.799C>T
1 paper
NM_000298.6
p.R273C
c.817C>T
1 paper
NM_000298.6
p.E266G
c.797A>G
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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."