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

10 papers

NM_000302.4

p.R512C

c.1534C>T

Surrounding Variants

10 papers

NM_000302.4

p.Y511*

c.1533C>A

10 papers

NM_000302.4

p.Y511*

c.1533C>G

1 paper

NM_000302.4

p.L516delFs

c.1548delG

1 paper

NM_000302.4

p.S507A

c.1519T>G

1 paper

NM_000302.4

p.D519E

c.1557C>G

2 papers

NM_000302.4

p.W521*

c.1562G>A

1 paper

NM_000302.4

p.W521*

c.1563G>A

9 papers

NM_000302.4

p.R499W

c.1495C>T

1 paper

NM_000302.4

p.F493I

c.1477T>A

1 paper

NM_000302.4

p.D491A

c.1472A>C

1 paper

NM_000302.4

p.Q490_D491Splc

c.1471-1G>A

1 paper

NM_000302.4

p.Q490_D491Splc

c.1471-2A>G