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

Selected Variant

2 papers

NM_032211.7

p.G113R

c.337G>A

Surrounding Variants

2 papers

NM_032211.7

p.G113R

c.337G>C

1 paper

NM_032211.7

p.V128E

c.383T>A

1 paper

NM_032211.7

p.I131L

c.391A>T

1 paper

NM_032211.7

p.I131L

c.391A>C

1 paper

NM_032211.7

p.S142F

c.425C>T

1 paper

NM_032211.7

p.K87*

c.259A>T

1 paper

NM_032211.7

p.T81S

c.242C>G

1 paper

NM_032211.7

p.E66*

c.196G>T

1 paper

NM_032211.7

p.C58*

c.174T>A

1 paper

NM_032211.7

p.V57E

c.170T>A

1 paper

NM_032211.7

p.W3S

c.8G>C

4 papers

NM_032211.7

p.G153D

c.458G>A