Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.Q372_M373Splc

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.Q372_M373Splc
c.1116+23T>G
Surrounding Variants
1 paper
NM_000298.6
p.Q372R
c.1115A>G
1 paper
NM_000298.6
p.T371I
c.1112C>T
1 paper
NM_000298.6
p.A370V
c.1109C>T
2 papers
NM_000298.6
p.V368F
c.1102G>T
1 paper
NM_000298.6
p.P366_V367insFs
c.1098_1099insA
1 paper
NM_000298.6
p.P366delFs
c.1097delG
1 paper
NM_000298.6
p.P366L
c.1097C>T
1 paper
NM_000298.6
p.P366fs
c.1096_1097fs
2 papers
NM_000298.6
p.P366S
c.1096C>T
1 paper
NM_000298.6
p.P366A
c.1096C>G
1 paper
NM_000298.6
p.K365M
c.1094A>T
1 paper
NM_000298.6
p.G364insFs
c.1091dupG
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