Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.T93I

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.T93I
c.278C>T
Surrounding Variants
1 paper
NM_000298.6
p.T93T
c.279C>G
1 paper
NM_000298.6
p.G95W
c.283G>T
1 paper
NM_000298.6
p.G95R
c.283G>A
1 paper
NM_000298.6
p.I91T
c.272T>C
1 paper
NM_000298.6
p.G95Splc
c.283+1G>A
14 papers
NM_000298.6
p.I90N
c.269T>A
1 paper
NM_000298.6
p.S89S
c.267C>T
1 paper
NM_000298.6
p.T88T
c.264C>T
1 paper
NM_000298.6
p.S87C
c.259A>T
1 paper
NM_000298.6
p.R86L
c.257G>T
1 paper
NM_000298.6
p.R86P
c.257G>C
2 papers
NM_000298.6
p.R86H
c.257G>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."