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.K220_H221delFs

c.660_661delGC

Surrounding Variants

1 paper

NM_002318.3

p.W222insFs

c.664_665insC

1 paper

NM_002318.3

p.Q216insFs

c.648dupG

1 paper

NM_002318.3

p.Q216fs

c.646_647fs

1 paper

NM_002318.3

p.Q216insFs

c.646_647ins10

1 paper

NM_002318.3

p.M233I

c.699G>A

2 papers

NM_002318.3

p.P237insFs

c.709_710insC

1 paper

NM_002318.3

p.T244insFs

c.730_731insG

1 paper

NM_002318.3

p.R198P

c.593G>C

1 paper

NM_002318.3

p.R198H

c.593G>A

1 paper

NM_002318.3

p.L192_Y195ins1

c.574_585dup12

1 paper

NM_002318.3

p.R196C

c.586C>T

1 paper

NM_002318.3

p.S193insFs

c.578_579insG