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.T590I

c.1769C>T

Surrounding Variants

1 paper

NM_002318.3

p.A582_S583ins12

c.1744_1748ins36

1 paper

NM_002318.3

p.L580_S581ins12

c.1738_1742ins36

5 papers

NM_002318.3

p.M570L

c.1708A>T

5 papers

NM_002318.3

p.M570L

c.1708A>C

5 papers

NM_002318.3

p.R566_P567ins12

c.1696_1700ins36

1 paper

NM_002318.3

p.D565_R566ins12

c.1693_1697ins36

1 paper

NM_002318.3

p.H618R

c.1853A>G

2 papers

NM_002318.3

p.H626Q

c.1878C>G

2 papers

NM_002318.3

p.H626Q

c.1878C>A

2 papers

NM_002318.3

p.R627Splc

c.1880+1G>A

1 paper

NM_002318.3

p.P548T

c.1642C>A

1 paper

NM_002318.3

p.A547T

c.1639G>A