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.R232Q

c.695G>A

Surrounding Variants

2 papers

NM_007365.3

p.R233Q

c.698G>A

1 paper

NM_007365.3

p.R225H

c.674G>A

1 paper

NM_007365.3

p.R225C

c.673C>T

1 paper

NM_007365.3

p.R225S

c.673C>A

1 paper

NM_007365.3

p.T242T

c.726G>A

1 paper

NM_007365.3

p.F221Y

c.662T>A

1 paper

NM_007365.3

p.G243G

c.729T>G

1 paper

NM_007365.3

p.N219S

c.656A>G

1 paper

NM_007365.3

p.P258P

c.774C>T

1 paper

NM_007365.3

p.E260G

c.779A>G

1 paper

NM_007365.3

p.E274A

c.821A>C

1 paper

NM_007365.3

p.T287M

c.860C>T