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

2 papers

NM_013358.3

p.K128*

c.382A>T

Surrounding Variants

2 papers

NM_013358.3

p.K128M

c.383A>T

1 paper

NM_013358.3

p.V129V

c.387G>A

1 paper

NM_013358.3

p.K130N

c.390G>C

1 paper

NM_013358.3

p.G124_R125delFs

c.372_375del4

2 papers

NM_013358.3

p.Q133K

c.397C>A

1 paper

NM_013358.3

p.D122V

c.365A>T

1 paper

NM_013358.3

p.G134delFs

c.400delG

1 paper

NM_013358.3

p.D135E

c.405C>A

1 paper

NM_013358.3

p.I117S

c.350T>G

2 papers

NM_013358.3

p.D116Splc

c.347-3C>G

1 paper

NM_013358.3

p.K136_K137Splc

c.408+13C>T

2 papers

NM_013358.3

p.D116Splc

c.346+2T>G