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

1–12 of 204 variants

10 papers

NM_182943.3

p.R619H

c.1856G>A

9 papers

NM_182943.3

p.G622C

c.1864G>T

9 papers

NM_182943.3

p.T629I

c.1886C>T

8 papers

NM_182943.3

p.V453Splc

c.1358+5G>A

8 papers

NM_182943.3

p.P520insFs

c.1559dupC

7 papers

NM_182943.3

p.G622V

c.1865G>T

7 papers

NM_182943.3

p.V627A

c.1880T>C

7 papers

NM_182943.3

p.H687R

c.2060A>G

6 papers

NM_182943.3

p.V523fs

c.1567_1568fs

6 papers

NM_182943.3

p.D585V

c.1754A>T

6 papers

NM_182943.3

p.W588C

c.1764G>T

5 papers

NM_182943.3

p.W588C

c.1764G>C