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.P40L

c.119C>T

Surrounding Variants

7 papers

NM_002318.3

p.H45Y

c.133C>T

1 paper

NM_002318.3

p.Q46R

c.137A>G

1 paper

NM_002318.3

p.P47fs

c.139_140fs

1 paper

NM_002318.3

p.A49insFs

c.145dupG

6 papers

NM_002318.3

p.S29G

c.85A>G

1 paper

NM_002318.3

p.N52I

c.155A>T

1 paper

NM_002318.3

p.Q48_A54del7

c.142_161del21

1 paper

NM_002318.3

p.L22ins1

c.65_66insTGG

1 paper

NM_002318.3

p.L22insFs

c.64dupC

1 paper

NM_002318.3

p.L22fs

c.64_65fs

1 paper

NM_002318.3

p.P21_L22ins2

c.63_64ins6

1 paper

NM_002318.3

p.L16_L18delFs

c.48_54del7