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

1–12 of 225 variants

3 papers

NM_013358.3

p.R551H

c.1652G>A

3 papers

NM_013358.3

p.R556Q

c.1667G>A

2 papers

NM_013358.3

p.M1I

c.3G>A

2 papers

NM_013358.3

p.M1I

c.3G>T

2 papers

NM_013358.3

p.K4M

c.11A>T

2 papers

NM_013358.3

p.H16Y

c.46C>T

2 papers

NM_013358.3

p.S45R

c.135C>G

2 papers

NM_013358.3

p.R56C

c.166C>T

2 papers

NM_013358.3

p.L112H

c.335T>A

2 papers

NM_013358.3

p.D116Splc

c.346+2T>G

2 papers

NM_013358.3

p.D116Splc

c.347-3C>G

2 papers

NM_013358.3

p.K128*

c.382A>T