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.R552H

c.1655G>A

Surrounding Variants

2 papers

NM_016233.2

p.I548V

c.1642A>G

5 papers

NM_016233.2

p.R557W

c.1669C>T

1 paper

NM_016233.2

p.Q545_S546Splc

c.1636-7C>T

1 paper

NM_016233.2

p.E563K

c.1687G>A

1 paper

NM_016233.2

p.T575S

c.1723A>T

1 paper

NM_016233.2

p.R577W

c.1729A>T

1 paper

NM_016233.2

p.K579delFs

c.1737delA

5 papers

NM_016233.2

p.K578*

c.1732A>T

1 paper

NM_016233.2

p.K579fs

c.1735_1736fs

4 papers

NM_016233.2

p.A582T

c.1744G>A

1 paper

NM_016233.2

p.N541N

c.1623T>C

1 paper

NM_016233.2

p.S527C

c.1580C>G