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.L1047L

c.3141G>A

Surrounding Variants

1 paper

NM_012293.3

p.T1046M

c.3137C>T

1 paper

NM_012293.3

p.P1055P

c.3165C>T

1 paper

NM_012293.3

p.N1058D

c.3172A>G

1 paper

NM_012293.3

p.A1059T

c.3175G>A

1 paper

NM_012293.3

p.N1063N

c.3189C>T

4 papers

NM_012293.3

p.A1064T

c.3190G>A

2 papers

NM_012293.3

p.H1028insFs

c.3082_3083ins7

1 paper

NM_012293.3

p.A1068S

c.3202G>T

2 papers

NM_012293.3

p.A1069D

c.3206C>A

4 papers

NM_012293.3

p.R1071G

c.3211A>G

1 paper

NM_012293.3

p.L1076F

c.3226C>T

1 paper

NM_012293.3

p.R1083R

c.3249G>A