Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.C201S

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.C201S
c.601T>A
Surrounding Variants
1 paper
NM_207421.4
p.C201S
c.602G>C
1 paper
NM_207421.4
p.S200G
c.598A>G
1 paper
NM_207421.4
p.I202T
c.605T>C
1 paper
NM_207421.4
p.L203fs
c.607_608fs
1 paper
NM_207421.4
p.L203_K204delFs
c.609_612del4
2 papers
NM_207421.4
p.V196I
c.586G>A
1 paper
NM_207421.4
p.N195S
c.584A>G
2 papers
NM_207421.4
p.R207W
c.619C>T
4 papers
NM_207421.4
p.R207Q
c.620G>A
1 paper
NM_207421.4
p.L208V
c.622C>G
1 paper
NM_207421.4
p.V209I
c.625G>A
1 paper
NM_207421.4
p.V209L
c.625G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."