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.L715R

c.2144T>G

Surrounding Variants

1 paper

NM_001084.5

p.E720*

c.2158G>T

1 paper

NM_001084.5

p.L709insFs

c.2126dupT

1 paper

NM_001084.5

p.P703ins1

c.2107_2108insAGG

1 paper

NM_001084.5

p.I731F

c.2191A>T

1 paper

NM_001084.5

p.D737E

c.2211C>G

1 paper

NM_001084.5

p.D737E

c.2211C>A

4 papers

NM_001084.5

p.C691delFs

c.2071delA

1 paper

NM_001084.5

p.C691fs

c.2071_2072fs

1 paper

NM_001084.5

p.T672N

c.2015C>A

4 papers

NM_001084.5

p.D669A

c.2006A>C

1 paper

NM_001084.5

p.P662P

c.1986G>A

1 paper

NM_001084.5

p.E660K

c.1978G>A