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.K35N

c.105G>T

Surrounding Variants

1 paper

NM_013358.3

p.K35N

c.105G>C

1 paper

NM_013358.3

p.K35*

c.103A>T

1 paper

NM_013358.3

p.P34_K35insFs

c.102_103insA

1 paper

NM_013358.3

p.N38D

c.112A>G

1 paper

NM_013358.3

p.V33G

c.98T>G

1 paper

NM_013358.3

p.S43T

c.127T>A

1 paper

NM_013358.3

p.S45R

c.133A>C

1 paper

NM_013358.3

p.S45G

c.133A>G

1 paper

NM_013358.3

p.S45R

c.135C>A

2 papers

NM_013358.3

p.S45R

c.135C>G

1 paper

NM_013358.3

p.S46F

c.137C>T

1 paper

NM_013358.3

p.G47V

c.140G>T