Varaico: Literature-Extracted Genetic Variants

PLOD2

190 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 333–535UCSCGlycosyltransferase family 25, N-terminal

2OG-FeII_Oxyaa 646–737UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

HGNC Alias Symbols

LH2; TLH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_182943.3

p.V453Splc

c.1358+5G>A

Surrounding Variants

1 paper

NM_182943.3

p.S441_E442insC

c.1321_1325ins3

1 paper

NM_182943.3

p.R440*

c.1318C>T

2 papers

NM_182943.3

p.N427S

c.1280A>G

2 papers

NM_182943.3

p.N427D

c.1279A>G

1 paper

NM_182943.3

p.S426insFs

c.1276dupT

1 paper

NM_182943.3

p.R420H

c.1259G>A

1 paper

NM_182943.3

p.R420G

c.1258C>G

1 paper

NM_182943.3

p.T419S

c.1256C>G

1 paper

NM_182943.3

p.T419S

c.1255A>T

1 paper

NM_182943.3

p.G469R

c.1405G>C

1 paper

NM_182943.3

p.G469R

c.1405G>A

1 paper

NM_182943.3

p.G469E

c.1406G>A