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

6 papers

NM_016233.2

p.P458T

c.1372C>A

Surrounding Variants

2 papers

NM_016233.2

p.V459fs

c.1375_1376fs

2 papers

NM_016233.2

p.P458insFs

c.1374dupC

1 paper

NM_016233.2

p.H451Y

c.1351C>T

1 paper

NM_016233.2

p.A467S

c.1399G>T

1 paper

NM_016233.2

p.V468M

c.1402G>A

1 paper

NM_016233.2

p.G469D

c.1406G>A

1 paper

NM_016233.2

p.G436Splc

c.1308-12C>A

1 paper

NM_016233.2

p.F486L

c.1456T>C

1 paper

NM_016233.2

p.F486L

c.1458C>A

1 paper

NM_016233.2

p.F486L

c.1458C>G

1 paper

NM_016233.2

p.R487Q

c.1460G>A

2 papers

NM_016233.2

p.E502*

c.1504G>T