Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.G27R

LDHA

160 papers

RefSeq Summary

This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. ...

Pfam Domains

Ldh_1_Naa 21–160UCSClactate/malate dehydrogenase, NAD binding domain
Ldh_1_Caa 163–331UCSClactate/malate dehydrogenase, alpha/beta C-terminal domain

Gene Aliases

HGNC Name

lactate dehydrogenase A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005566.4
p.G27R
c.79G>C
Surrounding Variants
1 paper
NM_005566.4
p.G27R
c.79G>A
1 paper
NM_005566.4
p.V26_G27insC
c.76_80ins3
1 paper
NM_005566.4
p.A30V
c.89C>T
2 papers
NM_005566.4
p.V31A
c.92T>C
1 paper
NM_005566.4
p.K22T
c.65A>C
1 paper
NM_005566.4
p.M33R
c.98T>G
1 paper
NM_005566.4
p.Q20fs
c.58_59fs
1 paper
NM_005566.4
p.Q20insFs
c.58dupC
1 paper
NM_005566.4
p.T18Fs
c.52delinsGTFs
1 paper
NM_005566.4
p.T18fs
c.52_53fs
1 paper
NM_005566.4
p.A36V
c.107C>T
1 paper
NM_005566.4
p.E16A
c.47A>C
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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."