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

1–12 of 87 variants

3 papers

NM_007365.3

p.S72L

c.215C>T

2 papers

NM_007365.3

p.R157Q

c.470G>A

2 papers

NM_007365.3

p.V212L

c.634G>T

2 papers

NM_007365.3

p.V212L

c.634G>C

2 papers

NM_007365.3

p.R233Q

c.698G>A

2 papers

NM_007365.3

p.R502Q

c.1505G>A

2 papers

NM_007365.3

p.R525*

c.1573C>T

2 papers

NM_007365.3

p.R552C

c.1654C>T

1 paper

NM_007365.3

p.P34L

c.101C>T

1 paper

NM_007365.3

p.R54C

c.160C>T

1 paper

NM_007365.3

p.D55Y

c.163G>T

1 paper

NM_007365.3

p.G56G

c.168G>A