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

4 papers

NM_001084.5

p.R452*

c.1354C>T

Surrounding Variants

1 paper

NM_001084.5

p.R440_Q449del10

c.1318_1346del30

1 paper

NM_001084.5

p.E442K

c.1324G>A

3 papers

NM_001084.5

p.A439T

c.1315G>A

1 paper

NM_001084.5

p.P434S

c.1300C>T

1 paper

NM_001084.5

p.W425R

c.1273T>C

1 paper

NM_001084.5

p.W425R

c.1273T>A

2 papers

NM_001084.5

p.A415T

c.1243G>A

1 paper

NM_001084.5

p.R411Splc

c.1233-9T>A

1 paper

NM_001084.5

p.L406del1

c.1216_1218delGAG

1 paper

NM_001084.5

p.D392A

c.1175A>C

1 paper

NM_001084.5

p.D382H

c.1144G>C

1 paper

NM_001084.5

p.L366L

c.1096C>T