Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A423A

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
3 papers
NM_000298.6
p.A423A
c.1269G>A
Surrounding Variants
3 papers
NM_000298.6
p.A423A
c.1269G>C
1 paper
NM_000298.6
p.A423G
c.1268C>G
1 paper
NM_000298.6
p.A423E
c.1268C>A
1 paper
NM_000298.6
p.A423T
c.1267G>A
2 papers
NM_000298.6
p.A423_I424Splc
c.1269+5G>A
1 paper
NM_000298.6
p.H422Y
c.1264C>T
3 papers
NM_000298.6
p.Q421K
c.1261C>A
1 paper
NM_000298.6
p.E416K
c.1246G>A
3 papers
NM_000298.6
p.P414L
c.1241C>T
2 papers
NM_000298.6
p.P414R
c.1241C>G
1 paper
NM_000298.6
p.F413I
c.1237T>A
1 paper
NM_000298.6
p.A423_I424Splc
c.1269+35G>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."