Varaico: Literature-Extracted Genetic Variants

PLOD3

128 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the h...

Pfam Domains

GT_PLODaa 35–279UCSCPLOD GT domain

Glyco_tranf_2_4aa 370–535UCSCGlycosyltransferase family 25, N-terminal

OGFOD2-likeaa 520–644UCSCOGFOD2-like domain

2OG-FeII_Oxyaa 648–738UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

HGNC Alias Symbol

LH3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001084.5

p.Y630*

c.1890T>A

Surrounding Variants

4 papers

NM_001084.5

p.Y630*

c.1890T>G

1 paper

NM_001084.5

p.L627P

c.1880T>C

1 paper

NM_001084.5

p.M634V

c.1900A>G

1 paper

NM_001084.5

p.M634insFs

c.1902dupG

2 papers

NM_001084.5

p.T635I

c.1904C>T

1 paper

NM_001084.5

p.V607V

c.1821G>A

1 paper

NM_001084.5

p.G603S

c.1807G>A

1 paper

NM_001084.5

p.R647P

c.1940G>C

1 paper

NM_001084.5

p.A648T

c.1942G>A

1 paper

NM_001084.5

p.V653A

c.1958T>C

1 paper

NM_001084.5

p.V653fs

c.1957_1958fs

1 paper

NM_001084.5

p.V653delFs

c.1958_1959delCA