Varaico: Literature-Extracted Genetic Variants

PADI3

136 papers

RefSeq Summary

This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the p...

Pfam Domains

PAD_Naa 1–113UCSCProtein-arginine deiminase (PAD) N-terminal domain

PAD_Maa 115–273UCSCProtein-arginine deiminase (PAD) middle domain

PADaa 283–661UCSCProtein-arginine deiminase (PAD)

Gene Aliases

HGNC Name

peptidyl arginine deiminase 3

HGNC Alias Symbol

PDI3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016233.2

p.V48M

c.142G>A

Surrounding Variants

1 paper

NM_016233.2

p.G47G

c.141C>T

6 papers

NM_016233.2

p.I52V

c.154A>G

1 paper

NM_016233.2

p.S53S

c.159T>A

1 paper

NM_016233.2

p.P54L

c.161C>T

1 paper

NM_016233.2

p.R58G

c.172A>G

1 paper

NM_016233.2

p.R60Q

c.179G>A

2 papers

NM_016233.2

p.R62C

c.184C>T

2 papers

NM_016233.2

p.R62H

c.185G>A

1 paper

NM_016233.2

p.R62L

c.185G>T

1 paper

NM_016233.2

p.R67Q

c.200G>A

3 papers

NM_016233.2

p.R69C

c.205C>T

1 paper

NM_016233.2

p.D71N

c.211G>A