Varaico: Literature-Extracted Genetic Variants

Gene:PADI4
Variant:p.D388A

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.D388A
c.1163A>C
Surrounding Variants
1 paper
NM_012387.3
p.G386D
c.1157G>A
1 paper
NM_012387.3
p.N409T
c.1226A>C
1 paper
NM_012387.3
p.E411A
c.1232A>C
1 paper
NM_012387.3
p.V418I
c.1252G>A
1 paper
NM_012387.3
p.E422G
c.1265A>G
1 paper
NM_012387.3
p.P424L
c.1271C>T
1 paper
NM_012387.3
p.L429I
c.1285C>A
1 paper
NM_012387.3
p.D432A
c.1295A>C
1 paper
NM_012387.3
p.P436T
c.1306C>A
1 paper
NM_012387.3
p.S437G
c.1309A>G
1 paper
NM_012387.3
p.S437Splc
c.1310+75C>A
1 paper
NM_012387.3
p.S452G
c.1354A>G
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