Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.K517I

PADI6

106 papers

RefSeq Summary

This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the p...

Pfam Domains

PAD_Naa 9–120UCSCProtein-arginine deiminase (PAD) N-terminal domain
PAD_Maa 122–281UCSCProtein-arginine deiminase (PAD) middle domain
PADaa 292–691UCSCProtein-arginine deiminase (PAD)

Gene Aliases

HGNC Name

peptidyl arginine deiminase 6

HGNC Previous Name

peptidyl arginine deiminase, type VI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207421.4
p.K517I
c.1550A>T
Surrounding Variants
1 paper
NM_207421.4
p.K517R
c.1550A>G
1 paper
NM_207421.4
p.E516D
c.1548G>C
1 paper
NM_207421.4
p.E516D
c.1548G>T
1 paper
NM_207421.4
p.R515Q
c.1544G>A
1 paper
NM_207421.4
p.R515G
c.1543C>G
1 paper
NM_207421.4
p.F514L
c.1542C>A
1 paper
NM_207421.4
p.F514L
c.1542C>G
1 paper
NM_207421.4
p.F514L
c.1540T>C
1 paper
NM_207421.4
p.G521V
c.1562G>T
1 paper
NM_207421.4
p.K512N
c.1536A>C
1 paper
NM_207421.4
p.K512N
c.1536A>T
1 paper
NM_207421.4
p.D524N
c.1570G>A
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