Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.V276ins4

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.V276ins4
c.826_827ins12
Surrounding Variants
1 paper
NM_000298.6
p.V276insFs
c.826_827ins11
1 paper
NM_000298.6
p.V276M
c.826G>A
6 papers
NM_000298.6
p.V276delFs
c.826delC
2 papers
NM_000298.6
p.V276fs
c.826_827fs
6 papers
NM_000298.6
p.G275R
c.823G>C
13 papers
NM_000298.6
p.E277K
c.829G>A
5 papers
NM_000298.6
p.G275R
c.823G>A
1 paper
NM_000298.6
p.F274L
c.822C>G
1 paper
NM_000298.6
p.R273C
c.817C>T
5 papers
NM_000298.6
p.L272V
c.814C>G
2 papers
NM_000298.6
p.D281N
c.841G>A
1 paper
NM_000298.6
p.D281ins1
c.842_843insTGA
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