Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.H507Q

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.H507Q
c.1521C>A
Surrounding Variants
1 paper
NM_000298.6
p.H507Q
c.1521C>G
1 paper
NM_000298.6
p.L508F
c.1524A>T
1 paper
NM_000298.6
p.L508F
c.1524A>C
1 paper
NM_000298.6
p.C509S
c.1525T>A
1 paper
NM_000298.6
p.C509S
c.1526G>C
12 papers
NM_000298.6
p.V506I
c.1516G>A
1 paper
NM_000298.6
p.C509Y
c.1526G>A
12 papers
NM_000298.6
p.R510*
c.1528C>T
76 papers
NM_000298.6
p.R510Q
c.1529G>A
1 paper
NM_000298.6
p.Q505E
c.1513C>G
5 papers
NM_000298.6
p.R504L
c.1511G>T
2 papers
NM_000298.6
p.G511R
c.1531G>C
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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."