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.A78_A79insFs

c.234_235insAA

Surrounding Variants

1 paper

NM_032603.5

p.W66_G67delFs

c.198_201del4

1 paper

NM_032603.5

p.R62*

c.184C>T

1 paper

NM_032603.5

p.Q61*

c.181C>T

1 paper

NM_032603.5

p.A91_S97del7

c.271_290del21

2 papers

NM_032603.5

p.F44I

c.130T>A

1 paper

NM_032603.5

p.R43Q

c.128G>A

1 paper

NM_032603.5

p.E34Q

c.100G>C

1 paper

NM_032603.5

p.S28S

c.84C>T

5 papers

NM_032603.5

p.L14fs

c.40_41fs

5 papers

NM_032603.5

p.G13insFs

c.39dupG

1 paper

NM_032603.5

p.R2*

c.4C>T

1 paper

NM_032603.5

p.C114Y

c.341G>A