Varaico: Literature-Extracted Genetic Variants

Gene:PADI4
Variant:p.P300fs

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.P300fs
c.898_899fs
Surrounding Variants
2 papers
NM_012387.3
p.T299N
c.896C>A
1 paper
NM_012387.3
p.N301insFs
c.901dupA
2 papers
NM_012387.3
p.M298I
c.894G>T
1 paper
NM_012387.3
p.W296C
c.888G>C
1 paper
NM_012387.3
p.W296C
c.888G>T
3 papers
NM_012387.3
p.A294V
c.881C>T
1 paper
NM_012387.3
p.P305P
c.915G>A
1 paper
NM_012387.3
p.Q306K
c.916C>A
1 paper
NM_012387.3
p.V293E
c.878T>A
1 paper
NM_012387.3
p.V293A
c.878T>C
1 paper
NM_012387.3
p.V293M
c.877G>A
1 paper
NM_012387.3
p.E307E
c.921G>A
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