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.Q49delFs

c.145delC

Surrounding Variants

6 papers

NM_000302.4

p.Q49*

c.145C>T

5 papers

NM_000302.4

p.Q49L

c.146A>T

1 paper

NM_000302.4

p.R46C

c.136C>T

1 paper

NM_000302.4

p.R42H

c.125G>A

1 paper

NM_000302.4

p.R42C

c.124C>T

1 paper

NM_000302.4

p.F41S

c.122T>C

1 paper

NM_000302.4

p.E37K

c.109G>A

1 paper

NM_000302.4

p.L29_T32delFs

c.85_95del11

1 paper

NM_000302.4

p.N27_L28delFs

c.81_82delCC

1 paper

NM_000302.4

p.Q56_A57Splc

c.169-53C>G

1 paper

NM_000302.4

p.L60insFs

c.178_179insC

1 paper

NM_000302.4

p.G59G

c.177C>T