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.T483fs

c.1447_1448fs

Surrounding Variants

1 paper

NM_032603.5

p.T483delFs

c.1448_1449delTG

1 paper

NM_032603.5

p.G489R

c.1465G>A

2 papers

NM_032603.5

p.I523_C524delFs

c.1569_1570delAG

2 papers

NM_032603.5

p.I523_C524del2

c.1567_1571del6

1 paper

NM_032603.5

p.W450R

c.1348T>C

1 paper

NM_032603.5

p.W450R

c.1348T>A

1 paper

NM_032603.5

p.R429*

c.1285C>T

2 papers

NM_032603.5

p.A402A

c.1206C>T

1 paper

NM_032603.5

p.T527Splc

c.1580-1G>A

1 paper

NM_032603.5

p.T527delFs

c.1580delG

1 paper

NM_032603.5

p.D530delFs

c.1588delC

3 papers

NM_032603.5

p.R375H

c.1124G>A