Varaico: Literature-Extracted Genetic Variants

PADI4

300 papers

RefSeq Summary

This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage develop...

Pfam Domains

PAD_Naa 1–111UCSCProtein-arginine deiminase (PAD) N-terminal domain

PAD_Maa 113–273UCSCProtein-arginine deiminase (PAD) middle domain

PADaa 283–660UCSCProtein-arginine deiminase (PAD)

Gene Aliases

HGNC Name

peptidyl arginine deiminase 4

HGNC Previous Symbol

PADI5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012387.3

p.A119E

c.356C>A

Surrounding Variants

1 paper

NM_012387.3

p.D120N

c.358G>A

1 paper

NM_012387.3

p.D120H

c.358G>C

1 paper

NM_012387.3

p.D120V

c.359A>T

1 paper

NM_012387.3

p.L117M

c.349T>A

3 papers

NM_012387.3

p.L117L

c.349T>C

1 paper

NM_012387.3

p.T124P

c.370A>C

1 paper

NM_012387.3

p.T124S

c.370A>T

1 paper

NM_012387.3

p.T124S

c.371C>G

1 paper

NM_012387.3

p.G125S

c.373G>A

1 paper

NM_012387.3

p.K128K

c.384G>A

2 papers

NM_012387.3

p.E114Splc

c.341-15T>C

1 paper

NM_012387.3

p.T130I

c.389C>T