Varaico: Literature-Extracted Genetic Variants

Gene:PADI4
Variant:p.F40F

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.F40F
c.120C>T
Surrounding Variants
3 papers
NM_012387.3
p.T38A
c.112A>G
2 papers
NM_012387.3
p.C37Y
c.110G>A
1 paper
NM_012387.3
p.P46R
c.137C>G
1 paper
NM_012387.3
p.P34P
c.102T>A
1 paper
NM_012387.3
p.P34L
c.101C>T
2 papers
NM_012387.3
p.S32S
c.96T>C
2 papers
NM_012387.3
p.S32P
c.94T>C
1 paper
NM_012387.3
p.V50M
c.148G>A
1 paper
NM_012387.3
p.D51V
c.152A>T
1 paper
NM_012387.3
p.I52V
c.154A>G
1 paper
NM_012387.3
p.A53P
c.157G>C
26 papers
NM_012387.3
p.G55S
c.163G>A
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