Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.C74S

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.C74S
c.220T>A
Surrounding Variants
2 papers
NM_000298.6
p.C74S
c.221G>C
1 paper
NM_000298.6
p.L73P
c.218T>C
1 paper
NM_000298.6
p.L73H
c.218T>A
2 papers
NM_000298.6
p.L73F
c.217C>T
2 papers
NM_000298.6
p.H72_L73insCT
c.214_218ins6
1 paper
NM_000298.6
p.D77Y
c.229G>T
1 paper
NM_000298.6
p.I78V
c.232A>G
1 paper
NM_000298.6
p.L76_D77delFs
c.227_231del5
1 paper
NM_000298.6
p.T68delFs
c.204delG
1 paper
NM_000298.6
p.T68I
c.203C>T
2 papers
NM_000298.6
p.S80P
c.238T>C
1 paper
NM_000298.6
p.A66G
c.197C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."