Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.L327Q

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.L327Q
c.980T>A
Surrounding Variants
1 paper
NM_000298.6
p.L327P
c.980T>C
1 paper
NM_000298.6
p.L327delFs
c.979delG
1 paper
NM_000298.6
p.L327fs
c.979_980fs
1 paper
NM_000298.6
p.E325K
c.973G>A
1 paper
NM_000298.6
p.S330R
c.990C>A
3 papers
NM_000298.6
p.D331N
c.991G>A
9 papers
NM_000298.6
p.D331G
c.992A>G
1 paper
NM_000298.6
p.R322delFs
c.966delC
5 papers
NM_000298.6
p.D331E
c.993C>G
NM_181871.4
p.D300E
c.900C>G
7 papers
NM_000298.6
p.D331E
c.993C>A
NM_181871.4
p.D300E
c.900C>A
22 papers
NM_000298.6
p.G332S
c.994G>A
NM_181871.4
p.G301S
c.901G>A
2 papers
NM_000298.6
p.R322Splc
c.966-1G>T
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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."