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.V419M

c.1255G>A

Surrounding Variants

1 paper

NM_007365.3

p.V419fs

c.1255_1256fs

1 paper

NM_007365.3

p.T418N

c.1253C>A

1 paper

NM_007365.3

p.G421S

c.1261G>A

1 paper

NM_007365.3

p.R428H

c.1283G>A

1 paper

NM_007365.3

p.S401A

c.1201T>G

1 paper

NM_007365.3

p.L377V

c.1129C>G

1 paper

NM_007365.3

p.D374G

c.1121A>G

1 paper

NM_007365.3

p.V367M

c.1099G>A

1 paper

NM_007365.3

p.H362fs

c.1084_1085fs

1 paper

NM_007365.3

p.H362insFs

c.1084_1085insC

1 paper

NM_007365.3

p.D351N

c.1051G>A

1 paper

NM_007365.3

p.R448C

c.1342C>T