Varaico: Literature-Extracted Genetic Variants

PXDN

218 papers

RefSeq Summary

This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological ...

Pfam Domains

LRR_8aa 62–118UCSCLeucine rich repeat

LRR_8aa 86–146UCSCLeucine rich repeat

LRR_8aa 139–194UCSCLeucine rich repeat

I-setaa 246–334UCSCImmunoglobulin I-set domain

I-setaa 342–429UCSCImmunoglobulin I-set domain

I-setaa 433–519UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

peroxidasin

HGNC Alias Symbols

KIAA0230; MG50; D2S448; D2S448E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012293.3

p.D843N

c.2527G>A

Surrounding Variants

1 paper

NM_012293.3

p.A839P

c.2515G>C

1 paper

NM_012293.3

p.V850M

c.2548G>A

4 papers

NM_012293.3

p.P856delFs

c.2568delG

3 papers

NM_012293.3

p.C857fs

c.2569_2570fs

2 papers

NM_012293.3

p.C857delFs

c.2569delA

1 paper

NM_012293.3

p.C857W

c.2571C>G

1 paper

NM_012293.3

p.D828G

c.2483A>G

1 paper

NM_012293.3

p.S859A

c.2575T>G

1 paper

NM_012293.3

p.W821*

c.2463G>A

1 paper

NM_012293.3

p.W821*

c.2462G>A

2 papers

NM_012293.3

p.P864fs

c.2590_2591fs

1 paper

NM_012293.3

p.P864delFs

c.2592delG