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.G577R

c.1729G>A

Surrounding Variants

2 papers

NM_032211.7

p.G577R

c.1729G>C

2 papers

NM_032211.7

p.R579H

c.1736G>A

1 paper

NM_032211.7

p.S566F

c.1697C>T

2 papers

NM_032211.7

p.E562del1

c.1684_1686delCTC

1 paper

NM_032211.7

p.R602C

c.1804C>T

1 paper

NM_032211.7

p.R602H

c.1805G>A

1 paper

NM_032211.7

p.S616S

c.1848C>T

1 paper

NM_032211.7

p.V633M

c.1897G>A

1 paper

NM_032211.7

p.K638E

c.1912A>G

1 paper

NM_032211.7

p.D645G

c.1934A>G

1 paper

NM_032211.7

p.D530fs

c.1588_1589fs

1 paper

NM_032211.7

p.D530delFs

c.1588delC