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.D419V

c.1256A>T

Surrounding Variants

1 paper

NM_002318.3

p.H416R

c.1247A>G

1 paper

NM_002318.3

p.N415_H416insCA

c.1243_1247ins6

1 paper

NM_002318.3

p.G413_C414insC

c.1237_1241ins3

1 paper

NM_002318.3

p.C405F

c.1214G>T

1 paper

NM_002318.3

p.C405G

c.1213T>G

1 paper

NM_002318.3

p.C395R

c.1183T>C

3 papers

NM_002318.3

p.G439S

c.1315G>A

1 paper

NM_002318.3

p.R441C

c.1321C>T

1 paper

NM_002318.3

p.V476G

c.1427T>G

1 paper

NM_002318.3

p.R478C

c.1432C>T

1 paper

NM_002318.3

p.A485P

c.1453G>C

1 paper

NM_002318.3

p.A485T

c.1453G>A