Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.V343fs

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.V343fs
c.1027_1028fs
Surrounding Variants
2 papers
NM_207421.4
p.V343L
c.1027G>C
2 papers
NM_207421.4
p.V343L
c.1027G>T
1 paper
NM_207421.4
p.V343delins
c.1027_1028delinsTG
1 paper
NM_207421.4
p.Q342H
c.1026G>C
1 paper
NM_207421.4
p.Q342H
c.1026G>T
3 papers
NM_207421.4
p.Q342delFs
c.1026delG
4 papers
NM_207421.4
p.Q342fs
c.1024_1025fs
1 paper
NM_207421.4
p.A344T
c.1030G>A
1 paper
NM_207421.4
p.S341R
c.1023C>A
1 paper
NM_207421.4
p.S341R
c.1023C>G
1 paper
NM_207421.4
p.S341R
c.1021A>C
1 paper
NM_207421.4
p.S341C
c.1021A>T
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