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

2 papers

NM_002318.3

p.H628Q

c.1884C>G

Surrounding Variants

2 papers

NM_002318.3

p.H628Q

c.1884C>A

1 paper

NM_002318.3

p.Y629C

c.1886A>G

1 paper

NM_002318.3

p.L641L

c.1921C>T

1 paper

NM_002318.3

p.T646_K647ins10

c.1936_1940ins30

1 paper

NM_002318.3

p.C663Y

c.1988G>A

1 paper

NM_002318.3

p.E664_G665insC

c.1990_1994ins3

1 paper

NM_002318.3

p.D666Splc

c.1997-1G>A

1 paper

NM_002318.3

p.I667T

c.2000T>C

3 papers

NM_002318.3

p.Y689F

c.2066A>T

1 paper

NM_002318.3

p.D694N

c.2080G>A

1 paper

NM_002318.3

p.V720D

c.2159T>A

1 paper

NM_002318.3

p.N728delFs

c.2184delG