Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.I494T

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
2 papers
NM_000298.6
p.I494T
c.1481T>C
Surrounding Variants
2 papers
NM_000298.6
p.A495T
c.1483G>A
8 papers
NM_000298.6
p.A495V
c.1484C>T
2 papers
NM_000298.6
p.V496G
c.1487T>G
1 paper
NM_000298.6
p.T497I
c.1490C>T
4 papers
NM_000298.6
p.R498C
c.1492C>T
4 papers
NM_000298.6
p.R498H
c.1493G>A
1 paper
NM_000298.6
p.R490Q
c.1469G>A
25 papers
NM_000298.6
p.R490W
c.1468C>T
1 paper
NM_000298.6
p.R498fs
c.1492_1493fs
2 papers
NM_000298.6
p.S499P
c.1495T>C
1 paper
NM_000298.6
p.S499Y
c.1496C>A
1 paper
NM_000298.6
p.R488Q
c.1463G>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."