Varaico: Literature-Extracted Genetic Variants

Gene:PADI4
Variant:p.R484S

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.R484S
c.1452G>T
Surrounding Variants
1 paper
NM_012387.3
p.R484S
c.1452G>C
1 paper
NM_012387.3
p.D483A
c.1448A>C
1 paper
NM_012387.3
p.A481A
c.1443A>G
4 papers
NM_012387.3
p.D473A
c.1418A>C
1 paper
NM_012387.3
p.V472M
c.1414G>A
1 paper
NM_012387.3
p.H471Q
c.1413C>A
1 paper
NM_012387.3
p.H471Q
c.1413C>G
1 paper
NM_012387.3
p.H471H
c.1413C>T
1 paper
NM_012387.3
p.S452G
c.1354A>G
1 paper
NM_012387.3
p.L500R
c.1499T>G
1 paper
NM_012387.3
p.K520Splc
c.1558+572T>G
1 paper
NM_012387.3
p.S437Splc
c.1310+75C>A
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