Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.V146L

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.V146L
c.436G>T
Surrounding Variants
1 paper
NM_005566.4
p.V146M
c.436G>A
1 paper
NM_005566.4
p.V146L
c.436G>C
1 paper
NM_005566.4
p.V146E
c.437T>A
3 papers
NM_005566.4
p.A147S
c.439G>T
1 paper
NM_005566.4
p.I150insFs
c.449_450insT
1 paper
NM_005566.4
p.I150K
c.449T>A
1 paper
NM_005566.4
p.R157H
c.470G>A
1 paper
NM_005566.4
p.A168S
c.502G>T
1 paper
NM_005566.4
p.R169*
c.505C>T
2 papers
NM_005566.4
p.R171P
c.512G>C
1 paper
NM_005566.4
p.G175G
c.525G>A
1 paper
NM_005566.4
p.R177G
c.529A>G
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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."