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

1 paper

NM_182943.3

p.S528C

c.1583C>G

Surrounding Variants

1 paper

NM_182943.3

p.N529K

c.1587T>A

1 paper

NM_182943.3

p.E532G

c.1595A>G

6 papers

NM_182943.3

p.V523fs

c.1567_1568fs

4 papers

NM_182943.3

p.Y542fs

c.1624_1625fs

3 papers

NM_182943.3

p.Y542delFs

c.1624delA

1 paper

NM_182943.3

p.Q553R

c.1658A>G

8 papers

NM_182943.3

p.P520insFs

c.1559dupC

1 paper

NM_182943.3

p.S518N

c.1553G>A

1 paper

NM_182943.3

p.M516_L517Fs

c.1546_1551delinsTFs

1 paper

NM_182943.3

p.T513I

c.1538C>T

1 paper

NM_182943.3

p.P511Q

c.1532C>A

1 paper

NM_182943.3

p.E505_K506del2

c.1513_1517del6