Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.M1Fs

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.M1Fs
c.3delinsACFs
Surrounding Variants
2 papers
NM_005566.4
p.M1T
c.2T>C
1 paper
NM_005566.4
p.T3I
c.8C>T
1 paper
NM_005566.4
p.K5T
c.14A>C
1 paper
NM_005566.4
p.I9insFs
c.26_27insC
1 paper
NM_005566.4
p.Y10F
c.29A>T
1 paper
NM_005566.4
p.K14R
c.41A>G
1 paper
NM_005566.4
p.E16K
c.46G>A
2 papers
NM_005566.4
p.E16*
c.46G>T
1 paper
NM_005566.4
p.E16A
c.47A>C
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
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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."