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.F88_S89del1

c.264_266delGAG

Surrounding Variants

1 paper

NM_002318.3

p.D86_D87del1

c.257_259delCGT

1 paper

NM_002318.3

p.A92T

c.274G>A

1 paper

NM_002318.3

p.A93T

c.277G>A

1 paper

NM_002318.3

p.C84_D85del1

c.252_254delTCG

1 paper

NM_002318.3

p.V83delFs

c.248_249delCA

1 paper

NM_002318.3

p.G81D

c.242G>A

1 paper

NM_002318.3

p.W80C

c.240G>T

1 paper

NM_002318.3

p.W80C

c.240G>C

1 paper

NM_002318.3

p.W80_G81insTGG

c.238_242ins9

1 paper

NM_002318.3

p.G101D

c.302G>A

1 paper

NM_002318.3

p.W108S

c.323G>C

1 paper

NM_002318.3

p.A110_S111insCGG

c.328_332ins9