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.H739Q

c.2217T>G

Surrounding Variants

1 paper

NM_182943.3

p.H739Q

c.2217T>A

1 paper

NM_182943.3

p.K745delFs

c.2234delT

1 paper

NM_182943.3

p.L742_G747del6

c.2224_2240del18

1 paper

NM_182943.3

p.S728delFs

c.2184delG

1 paper

NM_182943.3

p.S722_P723insC

c.2164_2168ins3

5 papers

NM_182943.3

p.Q707_G708Splc

c.2122-2A>G

1 paper

NM_182943.3

p.G703ins1

c.2107_2108insAGG

1 paper

NM_182943.3

p.I697F

c.2089A>T

1 paper

NM_182943.3

p.I695M

c.2085A>G

2 papers

NM_182943.3

p.D689A

c.2066A>C

7 papers

NM_182943.3

p.H687R

c.2060A>G

1 paper

NM_182943.3

p.H687Y

c.2059C>T