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

1 paper

NM_001084.5

p.D79delins

c.236delinsG

Surrounding Variants

1 paper

NM_001084.5

p.V80G

c.239T>G

1 paper

NM_001084.5

p.G72R

c.214G>A

1 paper

NM_001084.5

p.R103L

c.308G>T

1 paper

NM_001084.5

p.M106I

c.318G>T

1 paper

NM_001084.5

p.M106I

c.318G>C

1 paper

NM_001084.5

p.M106I

c.318G>A

1 paper

NM_001084.5

p.F110L

c.328T>C

1 paper

NM_001084.5

p.F110L

c.330T>G

1 paper

NM_001084.5

p.F110L

c.330T>A

1 paper

NM_001084.5

p.D112G

c.335A>G

1 paper

NM_001084.5

p.D112_S113delFs

c.335_338del4

1 paper

NM_001084.5

p.D115V

c.344A>T