Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A36G

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.A36G
c.107C>G
Surrounding Variants
5 papers
NM_000298.6
p.G37E
c.110G>A
1 paper
NM_000298.6
p.P35S
c.103C>T
2 papers
NM_000298.6
p.G34Splc
c.101-1G>A
1 paper
NM_000298.6
p.R40W
c.118C>T
3 papers
NM_000298.6
p.R40Q
c.119G>A
1 paper
NM_000298.6
p.R41G
c.121C>G
1 paper
NM_000298.6
p.R40_R41Fs
c.119_121delinsGTFs
5 papers
NM_000298.6
p.R41Q
c.122G>A
1 paper
NM_000298.6
p.V44V
c.132G>A
1 paper
NM_000298.6
p.A45D
c.134C>A
1 paper
NM_000298.6
p.V44_A45del2
c.130_134del6
1 paper
NM_000298.6
p.Q46L
c.137A>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."