Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.K222E

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
3 papers
NM_005566.4
p.K222E
c.664A>G
Surrounding Variants
1 paper
NM_005566.4
p.D223G
c.668A>G
1 paper
NM_005566.4
p.K224N
c.672G>T
1 paper
NM_005566.4
p.W227*
c.680G>A
1 paper
NM_005566.4
p.L214ins4
c.641_642ins12
1 paper
NM_005566.4
p.L214fs
c.640_641fs
1 paper
NM_005566.4
p.T213I
c.638C>T
1 paper
NM_005566.4
p.L214delFs
c.640_641delCT
1 paper
NM_005566.4
p.L211R
c.632T>G
3 papers
NM_005566.4
p.Q233*
c.697C>T
1 paper
NM_005566.4
p.V235A
c.704T>C
1 paper
NM_005566.4
p.E236Q
c.706G>C
1 paper
NM_005566.4
p.G203A
c.608G>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."