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

2 papers

NM_017448.5

p.W227*

c.681G>A

Surrounding Variants

2 papers

NM_017448.5

p.W227*

c.680G>A

1 paper

NM_017448.5

p.D223G

c.668A>G

1 paper

NM_017448.5

p.S237G

c.709A>G

1 paper

NM_017448.5

p.W201R

c.601T>A

2 papers

NM_017448.5

p.W201R

c.601T>C

1 paper

NM_017448.5

p.L200F

c.600A>C

1 paper

NM_017448.5

p.L200F

c.600A>T

1 paper

NM_017448.5

p.S197T

c.590G>C

1 paper

NM_017448.5

p.E192K

c.574G>A

1 paper

NM_017448.5

p.H186R

c.557A>G

1 paper

NM_017448.5

p.T183fs

c.547_548fs

1 paper

NM_017448.5

p.T183delFs

c.548delC