Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.M377L

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.M377L
c.1129A>C
Surrounding Variants
1 paper
NM_000298.6
p.M377L
c.1129A>T
1 paper
NM_000298.6
p.M377K
c.1130T>A
1 paper
NM_000298.6
p.S376I
c.1127G>T
1 paper
NM_000298.6
p.M377fs
c.1129_1130fs
1 paper
NM_000298.6
p.M377delFs
c.1130delA
2 papers
NM_000298.6
p.L374P
c.1121T>C
1 paper
NM_000298.6
p.M373fs
c.1117_1118fs
1 paper
NM_000298.6
p.T379_K380del1
c.1137_1139delTTG
1 paper
NM_000298.6
p.K380del1
c.1138_1139delCTT
1 paper
NM_000298.6
p.M373insFs
c.1117_1118ins11
2 papers
NM_000298.6
p.Q372_M373Splc
c.1117-1G>C
1 paper
NM_000298.6
p.R382P
c.1145G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."