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.T330S

c.988A>T

Surrounding Variants

1 paper

NM_032603.5

p.R319P

c.956G>C

1 paper

NM_032603.5

p.R319Q

c.956G>A

1 paper

NM_032603.5

p.V343M

c.1027G>A

6 papers

NM_032603.5

p.R346W

c.1036C>T

1 paper

NM_032603.5

p.A313T

c.937G>A

1 paper

NM_032603.5

p.G351R

c.1051G>C

1 paper

NM_032603.5

p.G351R

c.1051G>A

1 paper

NM_032603.5

p.L357P

c.1070T>C

1 paper

NM_032603.5

p.R361H

c.1082G>A

1 paper

NM_032603.5

p.G365R

c.1093G>C

1 paper

NM_032603.5

p.G367S

c.1099G>A

1 paper

NM_032603.5

p.G367V

c.1100G>T