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.C687S

c.2060G>C

Surrounding Variants

1 paper

NM_000302.4

p.C687S

c.2059T>A

1 paper

NM_000302.4

p.N686S

c.2057A>G

2 papers

NM_000302.4

p.A691insFs

c.2071_2072insCC

1 paper

NM_000302.4

p.P692L

c.2075C>T

1 paper

NM_000302.4

p.R693fs

c.2077_2078fs

1 paper

NM_000302.4

p.R681Q

c.2042G>A

1 paper

NM_000302.4

p.C680S

c.2039G>C

1 paper

NM_000302.4

p.C680S

c.2038T>A

21 papers

NM_000302.4

p.G678R

c.2032G>A

16 papers

NM_000302.4

p.G678R

c.2032G>C

1 paper

NM_000302.4

p.G677C

c.2029G>T

1 paper

NM_000302.4

p.L698F

c.2092C>T