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.R1248G

c.3742A>G

Surrounding Variants

1 paper

NM_012293.3

p.L1236R

c.3707T>G

1 paper

NM_012293.3

p.R1227W

c.3679C>T

1 paper

NM_012293.3

p.V1219M

c.3655G>A

1 paper

NM_012293.3

p.D1212D

c.3636C>T

1 paper

NM_012293.3

p.N1210N

c.3630C>T

1 paper

NM_012293.3

p.Y1205C

c.3614A>G

4 papers

NM_012293.3

p.R1203Splc

c.3609-1G>C

1 paper

NM_012293.3

p.R1248G

c.3742A>G

1 paper

NM_012293.3

p.P1254S

c.3760C>T

1 paper

NM_012293.3

p.Q1261K

c.3781C>A

1 paper

NM_012293.3

p.T1268P

c.3802A>C

1 paper

NM_012293.3

p.S1269L

c.3806C>T