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.D547Y

c.1639G>T

Surrounding Variants

1 paper

NM_012387.3

p.R550H

c.1649G>A

1 paper

NM_012387.3

p.E551K

c.1651G>A

1 paper

NM_012387.3

p.L557L

c.1669C>T

1 paper

NM_012387.3

p.G558S

c.1672G>A

1 paper

NM_012387.3

p.D566G

c.1697A>G

1 paper

NM_012387.3

p.A581A

c.1743T>C

1 paper

NM_012387.3

p.F582V

c.1744T>G

1 paper

NM_012387.3

p.P584S

c.1750C>T

1 paper

NM_012387.3

p.L530_E543del14

c.1588_1628del42

1 paper

NM_012387.3

p.K522fs

c.1564_1565fs

1 paper

NM_012387.3

p.K522delFs

c.1566delA

1 paper

NM_012387.3

p.K520Splc

c.1558+572T>G