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

1 paper

NM_013358.3

p.G81delFs

c.243delC

Surrounding Variants

1 paper

NM_013358.3

p.G81C

c.241G>T

1 paper

NM_013358.3

p.V80M

c.238G>A

1 paper

NM_013358.3

p.V78I

c.232G>A

1 paper

NM_013358.3

p.M76K

c.227T>A

1 paper

NM_013358.3

p.D75E

c.225C>A

1 paper

NM_013358.3

p.D75E

c.225C>G

1 paper

NM_013358.3

p.A74A

c.222A>C

1 paper

NM_013358.3

p.P69Q

c.206C>A

1 paper

NM_013358.3

p.P69L

c.206C>T

1 paper

NM_013358.3

p.K91_V92Splc

c.273+5G>A

1 paper

NM_013358.3

p.I63T

c.188T>C

1 paper

NM_013358.3

p.R58C

c.172C>T