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_001316320.2

p.A413Splc

c.1238+1G>A

Surrounding Variants

2 papers

NM_000302.4

p.A366V

c.1097C>T

1 paper

NM_000302.4

p.A366Splc

c.1097+3G>C

7 papers

NM_000302.4

p.G365G

c.1095C>T

1 paper

NM_000302.4

p.N358S

c.1073A>G

1 paper

NM_000302.4

p.M356T

c.1067T>C

1 paper

NM_000302.4

p.R355W

c.1063C>T

1 paper

NM_000302.4

p.E353A

c.1058A>C

2 papers

NM_000302.4

p.Q345*

c.1033C>T

1 paper

NM_000302.4

p.E343K

c.1027G>A

1 paper

NM_000302.4

p.Q339*

c.1015C>T

2 papers

NM_000302.4

p.E334fs

c.1000_1001fs

1 paper

NM_000302.4

p.H329R

c.986A>G