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.G626delFs

c.1876_1877delCC

Surrounding Variants

6 papers

NM_032603.5

p.I615F

c.1843A>T

1 paper

NM_032603.5

p.H609Q

c.1827T>G

1 paper

NM_032603.5

p.H609Q

c.1827T>A

1 paper

NM_032603.5

p.R651W

c.1951C>T

1 paper

NM_032603.5

p.E653delFs

c.1957_1958delTC

1 paper

NM_032603.5

p.R593_W601del9

c.1777_1802del27

1 paper

NM_032603.5

p.A596T

c.1786G>A

1 paper

NM_032603.5

p.F592F

c.1776C>T

1 paper

NM_032603.5

p.R589*

c.1765C>T

14 papers

NM_032603.5

p.C676Y

c.2027G>A

1 paper

NM_032603.5

p.Y670_D675del6

c.2008_2024del18

1 paper

NM_001289165.2

p.R218P

c.653G>C