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.R742Q

c.2225G>A

Surrounding Variants

1 paper

NM_012293.3

p.R742fs

c.2224_2225fs

3 papers

NM_012293.3

p.R742W

c.2224C>T

1 paper

NM_012293.3

p.T743R

c.2228C>G

1 paper

NM_012293.3

p.R742_T743delFs

c.2226_2229del4

1 paper

NM_012293.3

p.H744_D745insFs

c.2232_2233ins4

1 paper

NM_012293.3

p.D745fs

c.2233_2234fs

1 paper

NM_012293.3

p.H738Q

c.2214C>G

1 paper

NM_012293.3

p.H738Q

c.2214C>A

1 paper

NM_012293.3

p.R728delFs

c.2184delG

3 papers

NM_012293.3

p.S759L

c.2276C>T

1 paper

NM_012293.3

p.A762T

c.2284G>A

1 paper

NM_012293.3

p.R765C

c.2293C>T