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

3 papers

NM_032603.5

p.G275insFs

c.824dupG

Surrounding Variants

3 papers

NM_032603.5

p.G275fs

c.823_824fs

2 papers

NM_032603.5

p.G275delFs

c.824delC

1 paper

NM_032603.5

p.P276fs

c.826_827fs

2 papers

NM_032603.5

p.A277fs

c.829_830fs

1 paper

NM_032603.5

p.G273fs

c.817_818fs

1 paper

NM_032603.5

p.V279G

c.836T>G

1 paper

NM_032603.5

p.S280N

c.839G>A

1 paper

NM_032603.5

p.T268T

c.804C>T

1 paper

NM_032603.5

p.N266_D267delFs

c.797_801del5

1 paper

NM_032603.5

p.A288delFs

c.863_864delCG

1 paper

NM_032603.5

p.L260L

c.778C>T

1 paper

NM_032603.5

p.S259F

c.776C>T