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

2 papers

NM_001084.5

p.D190A

c.569A>C

Surrounding Variants

2 papers

NM_001084.5

p.D191A

c.572A>C

1 paper

NM_001084.5

p.D189A

c.566A>C

1 paper

NM_001084.5

p.D187A

c.560A>C

1 paper

NM_001084.5

p.L198L

c.594C>T

1 paper

NM_001084.5

p.R181C

c.541C>T

1 paper

NM_001084.5

p.I179L

c.535A>C

1 paper

NM_001084.5

p.S166Y

c.497C>A

1 paper

NM_001084.5

p.E156fs

c.466_467fs

1 paper

NM_001084.5

p.E156V

c.467A>T

1 paper

NM_001084.5

p.E147_L150delFs

c.440_449del10

1 paper

NM_001084.5

p.L150P

c.449T>C

1 paper

NM_001084.5

p.F143L

c.429C>G