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

1–12 of 331 variants

6 papers

NM_012293.3

p.R880C

c.2638C>T

5 papers

NM_012293.3

p.Q316P

c.947A>C

5 papers

NM_012293.3

p.A340Splc

c.1018+1G>A

5 papers

NM_012293.3

p.G1166R

c.3496G>C

5 papers

NM_012293.3

p.G1166R

c.3496G>A

4 papers

NM_012293.3

p.R341*

c.1021C>T

4 papers

NM_012293.3

p.P856delFs

c.2568delG

4 papers

NM_012293.3

p.A1064T

c.3190G>A

4 papers

NM_012293.3

p.R1071G

c.3211A>G

4 papers

NM_012293.3

p.R1203Splc

c.3609-1G>C

4 papers

NM_012293.3

p.V1284L

c.3850G>T

4 papers

NM_012293.3

p.V1284L

c.3850G>C