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.D975_H976insAG

c.2923_2927ins6

Surrounding Variants

1 paper

NM_012293.3

p.G974R

c.2920G>C

2 papers

NM_012293.3

p.G974R

c.2920G>A

1 paper

NM_012293.3

p.L972Q

c.2915T>A

1 paper

NM_012293.3

p.A978V

c.2933C>T

1 paper

NM_012293.3

p.R993C

c.2977C>T

1 paper

NM_012293.3

p.H995R

c.2984A>G

1 paper

NM_012293.3

p.T1000M

c.2999C>T

1 paper

NM_012293.3

p.R943Q

c.2828G>A

1 paper

NM_012293.3

p.R943W

c.2827C>T

1 paper

NM_012293.3

p.Q942*

c.2824C>T

1 paper

NM_012293.3

p.R937Q

c.2810G>A

1 paper

NM_012293.3

p.R933C

c.2797C>T