Varaico: Literature-Extracted Genetic Variants

PADI2

90 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 1–114UCSCProtein-arginine deiminase (PAD) N-terminal domain

PAD_Maa 116–274UCSCProtein-arginine deiminase (PAD) middle domain

PADaa 284–662UCSCProtein-arginine deiminase (PAD)

Gene Aliases

HGNC Name

peptidyl arginine deiminase 2

HGNC Alias Symbols

KIAA0994; PDI2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007365.3

p.G56G

c.168G>A

Surrounding Variants

1 paper

NM_007365.3

p.D55Y

c.163G>T

1 paper

NM_007365.3

p.R54C

c.160C>T

3 papers

NM_007365.3

p.S72L

c.215C>T

1 paper

NM_007365.3

p.P34L

c.101C>T

1 paper

NM_007365.3

p.K92_V93Splc

c.276+772G>A

1 paper

NM_007365.3

p.Y97C

c.290A>G

1 paper

NM_007365.3

p.Y98C

c.293A>G

1 paper

NM_007365.3

p.E100K

c.298G>A

1 paper

NM_007365.3

p.D125N

c.373G>A

1 paper

NM_007365.3

p.R126G

c.376C>G

1 paper

NM_007365.3

p.K137Q

c.409A>C

1 paper

NM_007365.3

p.K137_A138Splc

c.412-2082G>A