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.G291del1

c.871_873delGGC

Surrounding Variants

2 papers

NM_000302.4

p.G291S

c.871G>A

1 paper

NM_000302.4

p.L289L

c.865C>T

1 paper

NM_000302.4

p.G291G

c.873C>T

1 paper

NM_000302.4

p.P286S

c.856C>T

1 paper

NM_000302.4

p.A284A

c.852T>C

1 paper

NM_000302.4

p.Q296H

c.888G>C

1 paper

NM_000302.4

p.P299P

c.897G>A

1 paper

NM_000302.4

p.V301L

c.901G>T

3 papers

NM_000302.4

p.S302Y

c.905C>A

1 paper

NM_000302.4

p.L309_H312del0

c.926_934del9

1 paper

NM_000302.4

p.R307G

c.919C>G

1 paper

NM_000302.4

p.L308_H312del0

c.923_934del12