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.K595delFs

c.1785delT

Surrounding Variants

1 paper

NM_182943.3

p.C597fs

c.1789_1790fs

1 paper

NM_182943.3

p.P590S

c.1768C>T

1 paper

NM_182943.3

p.F589delFs

c.1765delA

6 papers

NM_182943.3

p.W588C

c.1764G>T

5 papers

NM_182943.3

p.W588C

c.1764G>C

1 paper

NM_182943.3

p.L600_M604del5

c.1798_1811del15

1 paper

NM_000935.3

p.H585L

c.1754A>T

6 papers

NM_182943.3

p.D585V

c.1754A>T

5 papers

NM_182943.3

p.W610R

c.1828T>C

4 papers

NM_182943.3

p.W610R

c.1828T>A

1 paper

NM_182943.3

p.N577insFs

c.1730dupA

1 paper

NM_182943.3

p.I573_E576del4

c.1717_1727del12