Varaico: Literature-Extracted Genetic Variants

LOXL4

82 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 37–133UCSCScavenger receptor cysteine-rich domain

SRCRaa 169–287UCSCScavenger receptor cysteine-rich domain

SRCRaa 314–411UCSCScavenger receptor cysteine-rich domain

SRCRaa 424–529UCSCScavenger receptor cysteine-rich domain

Lysyl_oxidaseaa 533–731UCSCLysyl oxidase

Gene Aliases

HGNC Name

lysyl oxidase like 4

HGNC Alias Symbols

FLJ21889; LOXC

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

9 papers

NM_032211.7

p.D405A

c.1214A>C

7 papers

NM_032211.7

p.R154Q

c.461G>A

4 papers

NM_032211.7

p.G153D

c.458G>A

3 papers

NM_032211.7

p.V348M

c.1042G>A

3 papers

NM_032211.7

p.G382R

c.1144G>C

3 papers

NM_032211.7

p.G382R

c.1144G>A

2 papers

NM_032211.7

p.G113R

c.337G>C

2 papers

NM_032211.7

p.G113R

c.337G>A

2 papers

NM_032211.7

p.R379C

c.1135C>T

2 papers

NM_032211.7

p.D389N

c.1165G>A

2 papers

NM_032211.7

p.E562del1

c.1684_1686delCTC

2 papers

NM_032211.7

p.G577R

c.1729G>C