Varaico: Literature-Extracted Genetic Variants

Gene:PADI4
Variant:p.C645S

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.C645S
c.1933T>A
Surrounding Variants
1 paper
NM_012387.3
p.C645S
c.1934G>C
1 paper
NM_012387.3
p.V662M
c.1984G>A
1 paper
NM_012387.3
p.E621Q
c.1861G>C
8 papers
NM_012387.3
p.L620L
c.1858C>T
1 paper
NM_012387.3
p.C610Y
c.1829G>A
1 paper
NM_012387.3
p.R609C
c.1825C>T
1 paper
NM_012387.3
p.H595N
c.1783C>A
1 paper
NM_012387.3
p.V587fs
c.1759_1760fs
1 paper
NM_012387.3
p.P584S
c.1750C>T
1 paper
NM_012387.3
p.F582V
c.1744T>G
1 paper
NM_012387.3
p.A581A
c.1743T>C
1 paper
NM_012387.3
p.D566G
c.1697A>G
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