Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A430V

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.A430V
c.1289C>T
Surrounding Variants
1 paper
NM_000298.6
p.A428delFs
c.1284delT
1 paper
NM_000298.6
p.E429fs
c.1285_1286fs
1 paper
NM_000298.6
p.A428T
c.1282G>A
2 papers
NM_000298.6
p.Y433H
c.1297T>C
2 papers
NM_000298.6
p.Y433*
c.1299C>G
3 papers
NM_000298.6
p.Y433*
c.1299C>A
3 papers
NM_000298.6
p.R426Q
c.1277G>A
1 paper
NM_000298.6
p.R426W
c.1276C>T
1 paper
NM_000298.6
p.A425T
c.1273G>A
2 papers
NM_000298.6
p.A423_I424Splc
c.1270-3C>A
1 paper
NM_000298.6
p.A423_I424Splc
c.1270-5T>G
1 paper
NM_000298.6
p.F438F
c.1314T>C
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