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.A174G

c.521C>G

Surrounding Variants

2 papers

NM_032603.5

p.V175delFs

c.523_524delAC

1 paper

NM_032603.5

p.E167D

c.501G>T

1 paper

NM_032603.5

p.E167D

c.501G>C

1 paper

NM_032603.5

p.L182fs

c.544_545fs

1 paper

NM_032603.5

p.L182delFs

c.544delG

1 paper

NM_032603.5

p.V189E

c.566T>A

4 papers

NM_032603.5

p.S198delFs

c.594delC

4 papers

NM_032603.5

p.Q199fs

c.595_596fs

1 paper

NM_032603.5

p.Q199L

c.596A>T

1 paper

NM_032603.5

p.Q199P

c.596A>C

1 paper

NM_032603.5

p.S198_C201del0

c.593_601del9

1 paper

NM_032603.5

p.S198_C201del4

c.592_602del12