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

1–12 of 350 variants

21 papers

NM_000302.4

p.G678R

c.2032G>A

17 papers

NM_000302.4

p.R319*

c.955C>T

16 papers

NM_000302.4

p.G678R

c.2032G>C

12 papers

NM_000302.4

p.A99T

c.295G>A

10 papers

NM_000302.4

p.Y511*

c.1533C>A

10 papers

NM_000302.4

p.Y511*

c.1533C>G

10 papers

NM_000302.4

p.R512C

c.1534C>T

9 papers

NM_000302.4

p.R499W

c.1495C>T

7 papers

NM_000302.4

p.G365G

c.1095C>T

6 papers

NM_000302.4

p.Q49*

c.145C>T

5 papers

NM_000302.4

p.Q49L

c.146A>T

5 papers

NM_000302.4

p.F98F

c.294C>T