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.I343I

c.1029C>T

Surrounding Variants

2 papers

NM_001084.5

p.A344T

c.1030G>A

1 paper

NM_001084.5

p.E340K

c.1018G>A

1 paper

NM_001084.5

p.V360L

c.1078G>T

1 paper

NM_001084.5

p.V360L

c.1078G>C

2 papers

NM_001084.5

p.P362L

c.1085C>T

1 paper

NM_001084.5

p.A365T

c.1093G>A

1 paper

NM_001084.5

p.A365D

c.1094C>A

1 paper

NM_001084.5

p.L366L

c.1096C>T

1 paper

NM_001084.5

p.N335_E336Splc

c.1005+1G>T

1 paper

NM_001084.5

p.R327G

c.979A>G

1 paper

NM_001084.5

p.P325delFs

c.975delG

1 paper

NM_001084.5

p.P325fs

c.973_974fs