Varaico: Literature-Extracted Genetic Variants

Gene:PADI4
Variant:p.V293E

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.V293E
c.878T>A
Surrounding Variants
1 paper
NM_012387.3
p.V293A
c.878T>C
1 paper
NM_012387.3
p.V293M
c.877G>A
3 papers
NM_012387.3
p.A294V
c.881C>T
1 paper
NM_012387.3
p.R292L
c.875G>T
1 paper
NM_012387.3
p.R292C
c.874C>T
1 paper
NM_012387.3
p.F291L
c.871T>C
1 paper
NM_012387.3
p.V290A
c.869T>C
1 paper
NM_012387.3
p.W296C
c.888G>C
1 paper
NM_012387.3
p.W296C
c.888G>T
2 papers
NM_012387.3
p.M298I
c.894G>T
2 papers
NM_012387.3
p.T299N
c.896C>A
1 paper
NM_012387.3
p.P300fs
c.898_899fs
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