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.D166G

c.497A>G

Surrounding Variants

1 paper

NM_007365.3

p.D166Y

c.496G>T

1 paper

NM_007365.3

p.T159A

c.475A>G

1 paper

NM_007365.3

p.K175E

c.523A>G

2 papers

NM_007365.3

p.R157Q

c.470G>A

1 paper

NM_007365.3

p.L151L

c.451C>T

1 paper

NM_007365.3

p.A149T

c.445G>A

1 paper

NM_007365.3

p.L178L

c.534C>T

1 paper

NM_007365.3

p.D180A

c.539A>C

1 paper

NM_007365.3

p.R187Q

c.560G>A

1 paper

NM_007365.3

p.P191L

c.572C>T

1 paper

NM_007365.3

p.R193H

c.578G>A

1 paper

NM_007365.3

p.E199K

c.595G>A