Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.K380del1

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.K380del1
c.1138_1139delCTT
Surrounding Variants
1 paper
NM_000298.6
p.T379_K380del1
c.1137_1139delTTG
1 paper
NM_000298.6
p.R382P
c.1145G>C
1 paper
NM_000298.6
p.R382Q
c.1145G>A
1 paper
NM_000298.6
p.P383L
c.1148C>T
1 paper
NM_000298.6
p.P383Q
c.1148C>A
1 paper
NM_000298.6
p.T384A
c.1150A>G
1 paper
NM_000298.6
p.M377fs
c.1129_1130fs
1 paper
NM_000298.6
p.M377delFs
c.1130delA
15 papers
NM_000298.6
p.T384M
c.1151C>T
1 paper
NM_000298.6
p.M377K
c.1130T>A
1 paper
NM_000298.6
p.M377L
c.1129A>T
1 paper
NM_000298.6
p.M377L
c.1129A>C
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