Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.H306Q

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.H306Q
c.918C>G
Surrounding Variants
1 paper
NM_000298.6
p.H306Q
c.918C>A
1 paper
NM_000298.6
p.E304K
c.910G>A
1 paper
NM_000298.6
p.I310N
c.929T>A
1 paper
NM_000298.6
p.P303S
c.907C>T
1 paper
NM_000298.6
p.A300P
c.898G>C
1 paper
NM_000298.6
p.A300T
c.898G>A
1 paper
NM_000298.6
p.K313I
c.938A>T
10 papers
NM_000298.6
p.I314T
c.941T>C
1 paper
NM_000298.6
p.I314fs
c.940_941fs
4 papers
NM_000298.6
p.E315K
c.943G>A
1 paper
NM_000298.6
p.E315G
c.944A>G
1 paper
NM_000298.6
p.N316K
c.948C>G
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