Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.Q57*

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.Q57*
c.169C>T
Surrounding Variants
1 paper
NM_000298.6
p.F56Y
c.167T>A
1 paper
NM_000298.6
p.F56I
c.166T>A
4 papers
NM_000298.6
p.Q58*
c.172C>T
1 paper
NM_000298.6
p.F55I
c.163T>A
1 paper
NM_000298.6
p.A54G
c.161C>G
1 paper
NM_000298.6
p.T53del1
c.157_158delAGT
1 paper
NM_000298.6
p.T48_T53del0
c.142_159del18
1 paper
NM_000298.6
p.Q60*
c.178C>T
1 paper
NM_000298.6
p.L61R
c.182T>G
1 paper
NM_000298.6
p.L61Q
c.182T>A
1 paper
NM_000298.6
p.P62A
c.184C>G
1 paper
NM_000298.6
p.A63T
c.187G>A
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."