Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.D281ins1

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.D281ins1
c.842_843insTGA
Surrounding Variants
1 paper
NM_000298.6
p.D281delFs
c.841delC
2 papers
NM_000298.6
p.D281N
c.841G>A
2 papers
NM_000298.6
p.I282S
c.845T>G
1 paper
NM_000298.6
p.G279_I282delFs
c.835_844del10
4 papers
NM_000298.6
p.V283A
c.848T>C
13 papers
NM_000298.6
p.E277K
c.829G>A
2 papers
NM_000298.6
p.V276fs
c.826_827fs
6 papers
NM_000298.6
p.V276delFs
c.826delC
1 paper
NM_000298.6
p.S286F
c.857C>T
1 paper
NM_000298.6
p.V276insFs
c.826_827ins11
1 paper
NM_000298.6
p.V276ins4
c.826_827ins12
1 paper
NM_000298.6
p.V276M
c.826G>A
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