Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.W250*

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.W250*
c.749G>A
Surrounding Variants
1 paper
NM_005566.4
p.W250*
c.750G>A
1 paper
NM_005566.4
p.S249C
c.746C>G
3 papers
NM_005566.4
p.G253_A260delFs
c.759_778del20
1 paper
NM_005566.4
p.Y247Y
c.741C>T
1 paper
NM_005566.4
p.L254fs
c.760_761fs
1 paper
NM_005566.4
p.V256delFs
c.766_767delGT
1 paper
NM_005566.4
p.V256fs
c.766_767fs
1 paper
NM_005566.4
p.D258_P272del15
c.772_815del45
1 paper
NM_005566.4
p.I242V
c.724A>G
2 papers
NM_005566.4
p.N266T
c.797A>C
1 paper
NM_005566.4
p.R269W
c.805C>T
1 paper
NM_005566.4
p.H271Y
c.811C>T
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