Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.I357T

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.I357T
c.1070T>C
Surrounding Variants
4 papers
NM_000298.6
p.G358R
c.1072G>C
4 papers
NM_000298.6
p.G358R
c.1072G>A
1 paper
NM_000298.6
p.M356R
c.1067T>G
2 papers
NM_000298.6
p.G358E
c.1073G>A
1 paper
NM_000298.6
p.M356L
c.1066A>T
1 paper
NM_000298.6
p.M356L
c.1066A>C
3 papers
NM_000298.6
p.R359C
c.1075C>T
2 papers
NM_000298.6
p.K354del1
c.1060_1061delCTT
2 papers
NM_000298.6
p.R359P
c.1076G>C
3 papers
NM_000298.6
p.R359H
c.1076G>A
1 paper
NM_000298.6
p.M355V
c.1063A>G
1 paper
NM_000298.6
p.C360S
c.1078T>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."