Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.L419R

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.L419R
c.1256T>G
Surrounding Variants
1 paper
NM_207421.4
p.M420T
c.1259T>C
1 paper
NM_207421.4
p.N418Y
c.1252A>T
1 paper
NM_207421.4
p.G417W
c.1249G>T
7 papers
NM_207421.4
p.I416T
c.1247T>C
2 papers
NM_207421.4
p.S415Y
c.1244C>A
1 paper
NM_207421.4
p.S415A
c.1243T>G
1 paper
NM_207421.4
p.V427I
c.1279G>A
1 paper
NM_207421.4
p.A411D
c.1232C>A
1 paper
NM_207421.4
p.V427A
c.1280T>C
1 paper
NM_207421.4
p.G429del1
c.1285_1286delGGG
1 paper
NM_207421.4
p.G429_K430delFs
c.1286_1289del4
1 paper
NM_207421.4
p.H408Q
c.1224T>A
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