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

1–12 of 138 variants

7 papers

NM_002318.3

p.H45Y

c.133C>T

6 papers

NM_002318.3

p.S29G

c.85A>G

5 papers

NM_002318.3

p.R566_P567ins12

c.1696_1700ins36

5 papers

NM_002318.3

p.M570L

c.1708A>T

5 papers

NM_002318.3

p.M570L

c.1708A>C

3 papers

NM_002318.3

p.Q63_K64ins6

c.187_191ins18

3 papers

NM_002318.3

p.G439S

c.1315G>A

3 papers

NM_002318.3

p.G534R

c.1600G>C

3 papers

NM_002318.3

p.G534R

c.1600G>A

3 papers

NM_002318.3

p.Y689F

c.2066A>T

2 papers

NM_002318.3

p.Q182insFs

c.545_546insG

2 papers

NM_002318.3

p.P237insFs

c.709_710insC