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

1–12 of 43 variants

3 papers

NM_017448.5

p.R169C

c.505C>T

2 papers

NM_017448.5

p.W201R

c.601T>C

2 papers

NM_017448.5

p.W227*

c.680G>A

2 papers

NM_017448.5

p.W227*

c.681G>A

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.T3_V4delFs

c.7_11del5

1 paper

NM_017448.5

p.E6Q

c.16G>C

1 paper

NM_017448.5

p.Q7_K11del5

c.19_32del15

1 paper

NM_017448.5

p.E6E

c.18G>A

1 paper

NM_017448.5

p.Q7_K11del0

c.20_31del12

1 paper

NM_017448.5

p.D15E

c.45T>G