Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.Q324H

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.Q324H
c.972G>T
Surrounding Variants
1 paper
NM_207421.4
p.Q324H
c.972G>C
1 paper
NM_207421.4
p.L325M
c.973C>A
10 papers
NM_207421.4
p.Q324*
c.970C>T
2 papers
NM_207421.4
p.Q326R
c.977A>G
1 paper
NM_207421.4
p.E322D
c.966G>C
1 paper
NM_207421.4
p.Q326H
c.978G>C
1 paper
NM_207421.4
p.E322D
c.966G>T
1 paper
NM_207421.4
p.Q326H
c.978G>T
1 paper
NM_207421.4
p.V329A
c.986T>C
1 paper
NM_207421.4
p.D330N
c.988G>A
1 paper
NM_207421.4
p.D330A
c.989A>C
1 paper
NM_207421.4
p.T331A
c.991A>G
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