Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R449G

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.R449G
c.1345C>G
Surrounding Variants
3 papers
NM_000298.6
p.R449C
c.1345C>T
1 paper
NM_000298.6
p.S448N
c.1343G>A
1 paper
NM_000298.6
p.D450G
c.1349A>G
1 paper
NM_000298.6
p.L447I
c.1339C>A
3 papers
NM_000298.6
p.A445V
c.1334C>T
1 paper
NM_000298.6
p.A444S
c.1330G>T
2 papers
NM_000298.6
p.R443W
c.1327C>T
1 paper
NM_000298.6
p.R442H
c.1325G>A
2 papers
NM_000298.6
p.A456P
c.1366G>C
1 paper
NM_000298.6
p.L441delFs
c.1321delG
1 paper
NM_000298.6
p.L441I
c.1321C>A
1 paper
NM_000298.6
p.I457V
c.1369A>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."