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.C494S

c.1481G>C

Surrounding Variants

1 paper

NM_182943.3

p.C494S

c.1480T>A

1 paper

NM_182943.3

p.D490_L493del0

c.1468_1479del12

1 paper

NM_182943.3

p.R495*

c.1483C>T

1 paper

NM_182943.3

p.R484C

c.1450C>T

1 paper

NM_182943.3

p.R473L

c.1418G>T

1 paper

NM_182943.3

p.R473*

c.1417C>T

1 paper

NM_182943.3

p.G469E

c.1406G>A

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.M500_T501Splc

c.1501-2A>T

1 paper

NM_182943.3

p.E505_K506del2

c.1513_1517del6

1 paper

NM_182943.3

p.P511Q

c.1532C>A