Varaico: Literature-Extracted Genetic Variants

LOXL2

177 papers

RefSeq Summary

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine o...

Pfam Domains

SRCRaa 62–159UCSCScavenger receptor cysteine-rich domain

SRCRaa 196–302UCSCScavenger receptor cysteine-rich domain

SRCRaa 329–425UCSCScavenger receptor cysteine-rich domain

SRCRaa 438–544UCSCScavenger receptor cysteine-rich domain

Lysyl_oxidaseaa 548–746UCSCLysyl oxidase

Gene Aliases

HGNC Name

lysyl oxidase like 2

HGNC Alias Symbols

WS9-14; LOR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002318.3

p.S512L

c.1535C>T

Surrounding Variants

1 paper

NM_002318.3

p.R522H

c.1565G>A

2 papers

NM_002318.3

p.D524N

c.1570G>A

1 paper

NM_002318.3

p.P531A

c.1591C>G

3 papers

NM_002318.3

p.G534R

c.1600G>C

3 papers

NM_002318.3

p.G534R

c.1600G>A

2 papers

NM_002318.3

p.E545_T546insG

c.1633_1637ins3

1 paper

NM_002318.3

p.T546Splc

c.1636+4A>C

2 papers

NM_002318.3

p.A488T

c.1462G>A

1 paper

NM_002318.3

p.A485P

c.1453G>C

1 paper

NM_002318.3

p.A485T

c.1453G>A

1 paper

NM_002318.3

p.R478C

c.1432C>T

1 paper

NM_002318.3

p.V476G

c.1427T>G