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.E757fs

c.2269_2270fs

Surrounding Variants

1 paper

NM_002318.3

p.E757insFs

c.2269dupG

1 paper

NM_002318.3

p.E754K

c.2260G>A

1 paper

NM_002318.3

p.E755_F760del6

c.2263_2279del18

1 paper

NM_002318.3

p.G750A

c.2249G>C

1 paper

NM_002318.3

p.M743_N745del3

c.2227_2234del9

1 paper

NM_002318.3

p.D737D

c.2211C>T

1 paper

NM_002318.3

p.N728delFs

c.2184delG

1 paper

NM_002318.3

p.V720D

c.2159T>A

1 paper

NM_002318.3

p.D694N

c.2080G>A

3 papers

NM_002318.3

p.Y689F

c.2066A>T

1 paper

NM_002318.3

p.I667T

c.2000T>C

1 paper

NM_002318.3

p.D666Splc

c.1997-1G>A