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

1–12 of 108 variants

14 papers

NM_032603.5

p.C676Y

c.2027G>A

6 papers

NM_032603.5

p.R346W

c.1036C>T

6 papers

NM_032603.5

p.I615F

c.1843A>T

5 papers

NM_032603.5

p.L14fs

c.40_41fs

5 papers

NM_032603.5

p.G13insFs

c.39dupG

4 papers

NM_032603.5

p.S198delFs

c.594delC

4 papers

NM_032603.5

p.Q199fs

c.595_596fs

3 papers

NM_032603.5

p.G275insFs

c.824dupG

3 papers

NM_032603.5

p.G275fs

c.823_824fs

3 papers

NM_032603.5

p.R375H

c.1124G>A

2 papers

NM_032603.5

p.F44I

c.130T>A

2 papers

NM_032603.5

p.V175delFs

c.523_524delAC