Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.V335M

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
3 papers
NM_000298.6
p.V335M
c.1003G>A
Surrounding Variants
1 paper
NM_000298.6
p.A336S
c.1006G>T
1 paper
NM_000298.6
p.A336T
c.1006G>A
1 paper
NM_000298.6
p.R337W
c.1009C>T
1 paper
NM_000298.6
p.R337P
c.1010G>C
2 papers
NM_000298.6
p.R337Q
c.1010G>A
22 papers
NM_000298.6
p.G332S
c.994G>A
NM_181871.4
p.G301S
c.901G>A
5 papers
NM_000298.6
p.D331E
c.993C>G
NM_181871.4
p.D300E
c.900C>G
7 papers
NM_000298.6
p.D331E
c.993C>A
NM_181871.4
p.D300E
c.900C>A
9 papers
NM_000298.6
p.D331G
c.992A>G
1 paper
NM_000298.6
p.D339Y
c.1015G>T
4 papers
NM_000298.6
p.D339H
c.1015G>C
3 papers
NM_000298.6
p.D339N
c.1015G>A
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."