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

1–12 of 134 variants

11 papers

NM_001084.5

p.N223S

c.668A>G

5 papers

NM_001084.5

p.P270L

c.809C>T

4 papers

NM_001084.5

p.R452*

c.1354C>T

4 papers

NM_001084.5

p.Y630*

c.1890T>G

4 papers

NM_001084.5

p.Y630*

c.1890T>A

4 papers

NM_001084.5

p.D669A

c.2006A>C

4 papers

NM_001084.5

p.C691delFs

c.2071delA

3 papers

NM_001084.5

p.A439T

c.1315G>A

3 papers

NM_001084.5

p.R468G

c.1402C>G

2 papers

NM_001084.5

p.R135C

c.403C>T

2 papers

NM_001084.5

p.D190A

c.569A>C

2 papers

NM_001084.5

p.D191A

c.572A>C