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

3 papers

NM_012293.3

p.Y398fs

c.1192_1193fs

Surrounding Variants

2 papers

NM_012293.3

p.Y398delFs

c.1192delA

1 paper

NM_012293.3

p.V402I

c.1204G>A

1 paper

NM_012293.3

p.P393L

c.1178C>T

1 paper

NM_012293.3

p.D406G

c.1217A>G

1 paper

NM_012293.3

p.G408R

c.1222G>C

1 paper

NM_012293.3

p.G408R

c.1222G>A

1 paper

NM_012293.3

p.D386V

c.1157A>T

1 paper

NM_012293.3

p.A414V

c.1241C>T

2 papers

NM_012293.3

p.R380C

c.1138C>T

1 paper

NM_012293.3

p.G378V

c.1133G>T

1 paper

NM_012293.3

p.T376A

c.1126A>G

1 paper

NM_012293.3

p.V421G

c.1262T>G