Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A463V

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.A463V
c.1388C>T
Surrounding Variants
1 paper
NM_000298.6
p.E461K
c.1381G>A
4 papers
NM_000298.6
p.V460A
c.1379T>C
4 papers
NM_000298.6
p.V460M
c.1378G>A
1 paper
NM_000298.6
p.A459V
c.1376C>T
1 paper
NM_000298.6
p.A459G
c.1376C>G
1 paper
NM_000298.6
p.C467W
c.1401T>G
3 papers
NM_000298.6
p.G458D
c.1373G>A
1 paper
NM_000298.6
p.A468V
c.1403C>T
1 paper
NM_000298.6
p.I457V
c.1369A>G
1 paper
NM_000298.6
p.A470D
c.1409C>A
2 papers
NM_000298.6
p.A456P
c.1366G>C
1 paper
NM_000298.6
p.V473L
c.1417G>T
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