Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.V533insFs

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.V533insFs
c.1597_1598ins4
Surrounding Variants
1 paper
NM_000298.6
p.Q534K
c.1600C>A
1 paper
NM_000298.6
p.R532P
c.1595G>C
4 papers
NM_000298.6
p.R532Q
c.1595G>A
10 papers
NM_000298.6
p.R532W
c.1594C>T
NM_181871.4
p.R501W
c.1501C>T
1 paper
NM_000298.6
p.Q534insFs
c.1601_1602insA
1 paper
NM_000298.6
p.R531H
c.1592G>A
1 paper
NM_000298.6
p.R531S
c.1591C>A
1 paper
NM_000298.6
p.G536S
c.1606G>A
1 paper
NM_000298.6
p.G536V
c.1607G>T
1 paper
NM_000298.6
p.G536D
c.1607G>A
1 paper
NM_000298.6
p.E538*
c.1612G>T
2 papers
NM_000298.6
p.E538K
c.1612G>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."