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.L112F

c.334C>T

Surrounding Variants

27 papers

NM_016233.2

p.L112H

c.335T>A

1 paper

NM_016233.2

p.Y107C

c.320A>G

1 paper

NM_016233.2

p.A106V

c.317C>T

1 paper

NM_016233.2

p.P102L

c.305C>T

1 paper

NM_016233.2

p.S99N

c.296G>A

2 papers

NM_016233.2

p.Y96N

c.286T>A

1 paper

NM_016233.2

p.D116Splc

c.346+191C>G

1 paper

NM_016233.2

p.N81Y

c.241A>T

1 paper

NM_016233.2

p.V79I

c.235G>A

1 paper

NM_016233.2

p.D71N

c.211G>A

3 papers

NM_016233.2

p.R69C

c.205C>T

1 paper

NM_016233.2

p.R67Q

c.200G>A