Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.P383Q

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.P383Q
c.1148C>A
Surrounding Variants
1 paper
NM_000298.6
p.P383L
c.1148C>T
1 paper
NM_000298.6
p.T384A
c.1150A>G
1 paper
NM_000298.6
p.R382P
c.1145G>C
1 paper
NM_000298.6
p.R382Q
c.1145G>A
15 papers
NM_000298.6
p.T384M
c.1151C>T
2 papers
NM_000298.6
p.R385K
c.1154G>A
1 paper
NM_000298.6
p.K380del1
c.1138_1139delCTT
1 paper
NM_000298.6
p.A386T
c.1156G>A
1 paper
NM_000298.6
p.T379_K380del1
c.1137_1139delTTG
1 paper
NM_000298.6
p.E387G
c.1160A>G
1 paper
NM_000298.6
p.T388K
c.1163C>A
1 paper
NM_000298.6
p.M377fs
c.1129_1130fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."