Varaico: Literature-Extracted Genetic Variants

PADI1

305 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 1–113UCSCProtein-arginine deiminase (PAD) N-terminal domain

PAD_Maa 115–273UCSCProtein-arginine deiminase (PAD) middle domain

PADaa 281–660UCSCProtein-arginine deiminase (PAD)

Gene Aliases

HGNC Name

peptidyl arginine deiminase 1

HGNC Alias Symbols

HPAD10; PDI1; PDI; PAD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_013358.3

p.M1I

c.3G>A

Surrounding Variants

1 paper

NM_013358.3

p.M1I

c.3G>C

2 papers

NM_013358.3

p.M1I

c.3G>T

1 paper

NM_013358.3

p.M1T

c.2T>C

2 papers

NM_013358.3

p.K4M

c.11A>T

1 paper

NM_013358.3

p.S10S

c.30C>A

1 paper

NM_013358.3

p.L11P

c.32T>C

2 papers

NM_013358.3

p.H16Y

c.46C>T

1 paper

NM_013358.3

p.A17A

c.51C>A

1 paper

NM_013358.3

p.V18M

c.52G>A

1 paper

NM_013358.3

p.V21E

c.62T>A

1 paper

NM_013358.3

p.G22*

c.64G>T

1 paper

NM_013358.3

p.E24K

c.70G>A