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.Q537H

c.1611G>C

Surrounding Variants

1 paper

NM_013358.3

p.Q537H

c.1611G>T

1 paper

NM_013358.3

p.H521N

c.1561C>A

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.R556P

c.1667G>C

1 paper

NM_013358.3

p.L571delFs

c.1712delT

1 paper

NM_013358.3

p.K575*

c.1723A>T

1 paper

NM_013358.3

p.F582V

c.1744T>G

1 paper

NM_013358.3

p.M586_V587Splc

c.1758+1G>A

1 paper

NM_013358.3

p.D517H

c.1549G>C

1 paper

NM_013358.3

p.R489Q

c.1466G>A

1 paper

NM_013358.3

p.R489W

c.1465C>T