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

3 papers

NM_001084.5

p.R468G

c.1402C>G

Surrounding Variants

1 paper

NM_001084.5

p.D470fs

c.1408_1409fs

1 paper

NM_001084.5

p.R473G

c.1417C>G

1 paper

NM_001084.5

p.D488V

c.1463A>T

1 paper

NM_001084.5

p.P489L

c.1466C>T

1 paper

NM_001084.5

p.E511*

c.1531G>T

2 papers

NM_001084.5

p.R514W

c.1540C>T

1 paper

NM_001084.5

p.R514Q

c.1541G>A

1 paper

NM_001084.5

p.T523M

c.1568C>T

1 paper

NM_001084.5

p.W540*

c.1619G>A

1 paper

NM_001084.5

p.W540*

c.1620G>A

1 paper

NM_001084.5

p.R551W

c.1651C>T

1 paper

NM_001084.5

p.E560Q

c.1678G>C