Varaico: Literature-Extracted Genetic Variants

LDHC

41 papers

RefSeq Summary

Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase ...

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 C

HGNC Alias Symbol

CT32

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017448.5

p.K305N

c.915A>T

Surrounding Variants

1 paper

NM_017448.5

p.K305N

c.915A>C

1 paper

NM_017448.5

p.V304M

c.910G>A

1 paper

NM_017448.5

p.Y281D

c.841T>G

1 paper

NM_017448.5

p.I331R

c.992T>G

1 paper

NM_017448.5

p.G279R

c.835G>A

1 paper

NM_017448.5

p.G279R

c.835G>C

2 papers

NM_017448.5

p.R268S

c.804G>C

2 papers

NM_017448.5

p.R268S

c.804G>T

1 paper

NM_017448.5

p.Y247H

c.739T>C