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.T705M

c.2114C>T

Surrounding Variants

3 papers

NM_000302.4

p.H706R

c.2117A>G

1 paper

NM_000302.4

p.R703ins1

c.2107_2108insAGG

1 paper

NM_000302.4

p.R703*

c.2107C>T

1 paper

NM_000302.4

p.G702R

c.2104G>A

1 paper

NM_000302.4

p.H708H

c.2124T>C

1 paper

NM_000302.4

p.P701H

c.2102C>A

1 paper

NM_000302.4

p.H700R

c.2099A>G

1 paper

NM_000302.4

p.L711L

c.2133C>G

1 paper

NM_000302.4

p.L698F

c.2092C>T

1 paper

NM_000302.4

p.G716S

c.2146G>A

1 paper

NM_000302.4

p.R693fs

c.2077_2078fs

1 paper

NM_000302.4

p.P692L

c.2075C>T