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

17 papers

NM_000302.4

p.R319*

c.955C>T

Surrounding Variants

1 paper

NM_000302.4

p.M318K

c.953T>A

1 paper

NM_000302.4

p.N324S

c.971A>G

1 paper

NM_000302.4

p.H312H

c.936C>T

1 paper

NM_000302.4

p.H325H

c.975C>T

1 paper

NM_000302.4

p.H312Y

c.934C>T

1 paper

NM_000302.4

p.R310Q

c.929G>A

1 paper

NM_000302.4

p.L308_H312del0

c.923_934del12

1 paper

NM_000302.4

p.R307G

c.919C>G

1 paper

NM_000302.4

p.L309_H312del0

c.926_934del9

3 papers

NM_000302.4

p.S302Y

c.905C>A

1 paper

NM_000302.4

p.V301L

c.901G>T

1 paper

NM_000302.4

p.P299P

c.897G>A