Varaico: Literature-Extracted Genetic Variants

LOXL3

97 papers

RefSeq Summary

This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neo...

Pfam Domains

SRCRaa 50–145UCSCScavenger receptor cysteine-rich domain

SRCRaa 181–282UCSCScavenger receptor cysteine-rich domain

SRCRaa 310–407UCSCScavenger receptor cysteine-rich domain

SRCRaa 420–525UCSCScavenger receptor cysteine-rich domain

Lysyl_oxidaseaa 529–727UCSCLysyl oxidase

Gene Aliases

HGNC Name

lysyl oxidase like 3

HGNC Previous Name

lysyl oxidase-like 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032603.5

p.C114Y

c.341G>A

Surrounding Variants

1 paper

NM_032603.5

p.V121G

c.362T>G

1 paper

NM_032603.5

p.C124Y

c.371G>A

1 paper

NM_032603.5

p.T135M

c.404C>T

1 paper

NM_032603.5

p.T135T

c.405G>A

1 paper

NM_032603.5

p.D139G

c.416A>G

1 paper

NM_032603.5

p.A140T

c.418G>A

1 paper

NM_032603.5

p.V142F

c.424G>T

1 paper

NM_032603.5

p.V142I

c.424G>A

1 paper

NM_032603.5

p.P150Fs

c.449delinsAAFs

1 paper

NM_032603.5

p.G151D

c.452G>A

1 paper

NM_032603.5

p.S153L

c.458C>T

1 paper

NM_032603.5

p.S153*

c.458C>A