Varaico: Literature-Extracted Genetic Variants

Gene:PADI4
Variant:p.D350A

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
4 papers
NM_012387.3
p.D350A
c.1049A>C
Surrounding Variants
1 paper
NM_012387.3
p.E351A
c.1052A>C
1 paper
NM_012387.3
p.E353A
c.1058A>C
1 paper
NM_012387.3
p.G355_Y356delins
c.1065_1066delinsTT
1 paper
NM_012387.3
p.Q358L
c.1073A>T
1 paper
NM_012387.3
p.Q358Q
c.1074A>G
1 paper
NM_012387.3
p.A359T
c.1075G>A
1 paper
NM_012387.3
p.Q349_D350Splc
c.1048-34C>T
1 paper
NM_012387.3
p.D369A
c.1106A>C
1 paper
NM_012387.3
p.R372K
c.1115G>A
1 paper
NM_012387.3
p.N373S
c.1118A>G
1 paper
NM_012387.3
p.R374K
c.1121G>A
1 paper
NM_012387.3
p.G375R
c.1123G>C
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