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.S95insFs

c.283_284insGT

Surrounding Variants

1 paper

NM_013358.3

p.R93R

c.279G>A

1 paper

NM_013358.3

p.Y96N

c.286T>A

1 paper

NM_013358.3

p.Y96C

c.287A>G

1 paper

NM_013358.3

p.G98R

c.292G>A

1 paper

NM_013358.3

p.G98V

c.293G>T

1 paper

NM_013358.3

p.G98G

c.294G>A

1 paper

NM_013358.3

p.D102_Q103insA

c.304_308ins3

1 paper

NM_013358.3

p.G106R

c.316G>C

1 paper

NM_013358.3

p.G106V

c.317G>T

1 paper

NM_013358.3

p.G106G

c.318C>A

1 paper

NM_013358.3

p.R107C

c.319C>T

1 paper

NM_013358.3

p.R107H

c.320G>A