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.G127E

c.380G>A

Surrounding Variants

1 paper

NM_016233.2

p.C121*

c.363C>A

1 paper

NM_016233.2

p.K136_R137Splc

c.409-70C>G

1 paper

NM_016233.2

p.R137W

c.409C>T

1 paper

NM_016233.2

p.R137Q

c.410G>A

1 paper

NM_016233.2

p.W141*

c.422G>A

4 papers

NM_016233.2

p.P143S

c.427C>T

2 papers

NM_016233.2

p.R156C

c.466C>T

5 papers

NM_016233.2

p.Q169*

c.505C>T

9 papers

NM_016233.2

p.V171M

c.511G>A

1 paper

NM_016233.2

p.D176A

c.527A>C

1 paper

NM_016233.2

p.D176Splc

c.526+259A>G

3 papers

NM_016233.2

p.M180V

c.538A>G