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.E1138D

c.3414G>C

Surrounding Variants

1 paper

NM_012293.3

p.E1138D

c.3414G>T

1 paper

NM_012293.3

p.T1137M

c.3410C>T

1 paper

NM_012293.3

p.L1135L

c.3405G>A

1 paper

NM_012293.3

p.A1155E

c.3464C>A

1 paper

NM_012293.3

p.R1119delFs

c.3355_3356delCT

1 paper

NM_012293.3

p.R1161Q

c.3482G>A

5 papers

NM_012293.3

p.G1166R

c.3496G>C

5 papers

NM_012293.3

p.G1166R

c.3496G>A

1 paper

NM_012293.3

p.R1107W

c.3319C>T

1 paper

NM_012293.3

p.F1102L

c.3306C>G

1 paper

NM_012293.3

p.F1102L

c.3306C>A

1 paper

NM_012293.3

p.F1102L

c.3304T>C