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.D633N

c.1897G>A

Surrounding Variants

1 paper

NM_016233.2

p.P623P

c.1869G>T

2 papers

NM_016233.2

p.P623L

c.1868C>T

1 paper

NM_016233.2

p.E622D

c.1866G>C

1 paper

NM_016233.2

p.E622D

c.1866G>T

1 paper

NM_016233.2

p.V650M

c.1948G>A

4 papers

NM_016233.2

p.R652K

c.1955G>A

6 papers

NM_016233.2

p.P605T

c.1813C>A

1 paper

NM_016233.2

p.P602P

c.1806C>A

1 paper

NM_016233.2

p.K601T

c.1802A>C

4 papers

NM_016233.2

p.A582T

c.1744G>A

1 paper

NM_016233.2

p.K579fs

c.1735_1736fs

5 papers

NM_016233.2

p.K578*

c.1732A>T