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

6 papers

NM_012293.3

p.R880C

c.2638C>T

Surrounding Variants

1 paper

NM_012293.3

p.R880R

c.2640C>G

1 paper

NM_012293.3

p.V879M

c.2635G>A

1 paper

NM_012293.3

p.R874H

c.2621G>A

1 paper

NM_012293.3

p.G872R

c.2614G>C

1 paper

NM_012293.3

p.G872R

c.2614G>A

1 paper

NM_012293.3

p.P883_S887del0

c.2647_2661del15

1 paper

NM_012293.3

p.R868Q

c.2603G>A

1 paper

NM_012293.3

p.N865fs

c.2593_2594fs

1 paper

NM_012293.3

p.N865T

c.2594A>C

1 paper

NM_012293.3

p.P864delFs

c.2592delG

2 papers

NM_012293.3

p.P864fs

c.2590_2591fs

1 paper

NM_012293.3

p.P899R

c.2696C>G