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.T301N

c.902C>A

Surrounding Variants

1 paper

NM_012293.3

p.T307T

c.921A>G

1 paper

NM_012293.3

p.R293H

c.878G>A

1 paper

NM_012293.3

p.D291Y

c.871G>T

1 paper

NM_012293.3

p.G313S

c.937G>A

1 paper

NM_012293.3

p.Q316*

c.946C>T

5 papers

NM_012293.3

p.Q316P

c.947A>C

1 paper

NM_012293.3

p.M318K

c.953T>A

1 paper

NM_012293.3

p.V322M

c.964G>A

1 paper

NM_012293.3

p.A323S

c.967G>T

1 paper

NM_012293.3

p.E325_V326insFs

c.975_976insAG

1 paper

NM_012293.3

p.V326fs

c.976_977fs

2 papers

NM_012293.3

p.T328M

c.983C>T