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

12 papers

NM_000302.4

p.A99T

c.295G>A

Surrounding Variants

1 paper

NM_000302.4

p.F98L

c.294C>A

1 paper

NM_000302.4

p.F98L

c.294C>G

5 papers

NM_000302.4

p.F98F

c.294C>T

1 paper

NM_000302.4

p.F98L

c.292T>C

1 paper

NM_000302.4

p.D93insFs

c.277dupG

3 papers

NM_000302.4

p.L85P

c.254T>C

1 paper

NM_000302.4

p.L85_V95del11

c.253_284del33

3 papers

NM_000302.4

p.A84T

c.250G>A

2 papers

NM_000302.4

p.K82*

c.244A>T

1 paper

NM_000302.4

p.L81_K82del2

c.241_245del6

2 papers

NM_000302.4

p.G74E

c.221G>A

1 paper

NM_000302.4

p.T70A

c.208A>G