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.R327G

c.979A>G

Surrounding Variants

1 paper

NM_001084.5

p.P325delFs

c.975delG

1 paper

NM_001084.5

p.P325fs

c.973_974fs

1 paper

NM_001084.5

p.L318Q

c.953T>A

1 paper

NM_001084.5

p.N335_E336Splc

c.1005+1G>T

1 paper

NM_001084.5

p.R313R

c.939C>T

1 paper

NM_001084.5

p.E305D

c.915A>T

1 paper

NM_001084.5

p.E305D

c.915A>C

1 paper

NM_001084.5

p.V304M

c.910G>A

2 papers

NM_001084.5

p.R297fs

c.889_890fs

1 paper

NM_001084.5

p.R297Q

c.890G>A

1 paper

NM_001084.5

p.R297W

c.889C>T

1 paper

NM_001084.5

p.P296H

c.887C>A