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

5 papers

NM_001084.5

p.P270L

c.809C>T

Surrounding Variants

1 paper

NM_001084.5

p.V269I

c.805G>A

1 paper

NM_001084.5

p.Y268C

c.803A>G

1 paper

NM_001084.5

p.W273G

c.817T>G

1 paper

NM_001084.5

p.N263S

c.788A>G

1 paper

NM_001084.5

p.G278D

c.833G>A

1 paper

NM_001084.5

p.P257L

c.770C>T

2 papers

NM_001084.5

p.R239C

c.715C>T

1 paper

NM_001084.5

p.P296H

c.887C>A

1 paper

NM_001084.5

p.R297W

c.889C>T

1 paper

NM_001084.5

p.R297Q

c.890G>A

2 papers

NM_001084.5

p.R297fs

c.889_890fs

2 papers

NM_001084.5

p.R235Q

c.704G>A