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.N641S

c.1922A>G

Surrounding Variants

1 paper

NM_000935.3

p.W622L

c.1865G>T

1 paper

NM_182943.3

p.R648P

c.1943G>C

1 paper

NM_000935.3

p.R627Q

c.1880G>A

10 papers

NM_182943.3

p.T629I

c.1886C>T

NM_000935.3

p.T608I

c.1823C>T

2 papers

NM_182943.3

p.P653R

c.1958C>G

1 paper

NM_182943.3

p.T629A

c.1885A>G

7 papers

NM_182943.3

p.V627A

c.1880T>C

1 paper

NM_182943.3

p.S621_G623del3

c.1861_1868del9

8 papers

NM_182943.3

p.G622V

c.1865G>T

NM_000935.3

p.G601V

c.1802G>T

9 papers

NM_182943.3

p.G622C

c.1864G>T

3 papers

NM_182943.3

p.G661D

c.1982G>A

1 paper

NM_182943.3

p.Y662C

c.1985A>G