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

1 paper

NM_032211.7

p.H402Q

c.1206T>A

Surrounding Variants

1 paper

NM_032211.7

p.H402Q

c.1206T>G

9 papers

NM_032211.7

p.D405A

c.1214A>C

1 paper

NM_032211.7

p.S396A

c.1186T>G

1 paper

NM_032211.7

p.E394_G395delFs

c.1181_1184del4

1 paper

NM_032211.7

p.E394fs

c.1180_1181fs

1 paper

NM_032211.7

p.P413L

c.1238C>T

2 papers

NM_032211.7

p.D389N

c.1165G>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.R379C

c.1135C>T

1 paper

NM_032211.7

p.R358Q

c.1073G>A

1 paper

NM_032211.7

p.G355S

c.1063G>A