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

1–12 of 137 variants

27 papers

NM_016233.2

p.L112H

c.335T>A

19 papers

NM_016233.2

p.A294V

c.881C>T

9 papers

NM_016233.2

p.V171M

c.511G>A

6 papers

NM_016233.2

p.I52V

c.154A>G

6 papers

NM_016233.2

p.P458T

c.1372C>A

6 papers

NM_016233.2

p.P605T

c.1813C>A

5 papers

NM_016233.2

p.Q169*

c.505C>T

5 papers

NM_016233.2

p.R210W

c.628C>T

5 papers

NM_016233.2

p.T286A

c.856A>G

5 papers

NM_016233.2

p.R557W

c.1669C>T

5 papers

NM_016233.2

p.K578*

c.1732A>T

4 papers

NM_016233.2

p.P143S

c.427C>T