Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A66G

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.A66G
c.197C>G
Surrounding Variants
1 paper
NM_000298.6
p.M65I
c.195G>T
1 paper
NM_000298.6
p.M65I
c.195G>C
1 paper
NM_000298.6
p.M65I
c.195G>A
1 paper
NM_000298.6
p.M65T
c.194T>C
1 paper
NM_000298.6
p.T68I
c.203C>T
1 paper
NM_000298.6
p.T68delFs
c.204delG
1 paper
NM_000298.6
p.A63T
c.187G>A
1 paper
NM_000298.6
p.P62A
c.184C>G
1 paper
NM_000298.6
p.L61R
c.182T>G
1 paper
NM_000298.6
p.L61Q
c.182T>A
2 papers
NM_000298.6
p.H72_L73insCT
c.214_218ins6
1 paper
NM_000298.6
p.Q60*
c.178C>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."