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.L792H

c.2375T>A

Surrounding Variants

2 papers

NM_012293.3

p.L792fs

c.2374_2375fs

1 paper

NM_012293.3

p.P795L

c.2384C>T

1 paper

NM_012293.3

p.V798L

c.2392G>T

1 paper

NM_012293.3

p.V798L

c.2392G>C

1 paper

NM_012293.3

p.L786V

c.2356C>G

1 paper

NM_012293.3

p.H784insFs

c.2352dupC

1 paper

NM_012293.3

p.R785fs

c.2353_2354fs

2 papers

NM_012293.3

p.L792_S799delFs

c.2375_2397del23

1 paper

NM_012293.3

p.P783P

c.2349C>A

1 paper

NM_012293.3

p.T801I

c.2402C>T

1 paper

NM_012293.3

p.I781L

c.2341A>C

1 paper

NM_012293.3

p.R779Q

c.2336G>A