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.T317M

c.950C>T

Surrounding Variants

1 paper

NM_016233.2

p.C318Y

c.953G>A

1 paper

NM_016233.2

p.N315K

c.945C>A

1 paper

NM_016233.2

p.N315K

c.945C>G

1 paper

NM_016233.2

p.V320V

c.960G>A

1 paper

NM_016233.2

p.D321N

c.961G>A

1 paper

NM_016233.2

p.C332F

c.995G>T

3 papers

NM_016233.2

p.T335A

c.1003A>G

1 paper

NM_016233.2

p.T335I

c.1004C>T

1 paper

NM_016233.2

p.R343R

c.1029C>T

1 paper

NM_016233.2

p.R346C

c.1036C>T

1 paper

NM_016233.2

p.R312C

c.934C>T

1 paper

NM_016233.2

p.Q349_D350Splc

c.1047+48A>G