Varaico: Literature-Extracted Genetic Variants

PLOD1

280 papers

RefSeq Summary

Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residu...

Pfam Domains

GT_PLODaa 24–267UCSCPLOD GT domain

Glyco_tranf_2_4aa 361–524UCSCGlycosyltransferase family 25, N-terminal

OGFOD2-likeaa 510–633UCSCOGFOD2-like domain

2OG-FeII_Oxyaa 637–727UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

HGNC Previous Symbol

LLH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000302.4

p.L60insFs

c.178_179insC

Surrounding Variants

1 paper

NM_000302.4

p.G59G

c.177C>T

1 paper

NM_000302.4

p.E62K

c.184G>A

1 paper

NM_000302.4

p.W64*

c.191G>A

1 paper

NM_000302.4

p.W64*

c.192G>A

1 paper

NM_000302.4

p.V66delFs

c.197_198delTG

1 paper

NM_000302.4

p.V66fs

c.196_197fs

1 paper

NM_000302.4

p.G69R

c.205G>A

1 paper

NM_000302.4

p.G69R

c.205G>C

1 paper

NM_000302.4

p.T70A

c.208A>G

2 papers

NM_000302.4

p.G74E

c.221G>A

1 paper

NM_000302.4

p.Q56_A57Splc

c.169-53C>G

1 paper

NM_000302.4

p.L81_K82del2

c.241_245del6