Varaico: Literature-Extracted Genetic Variants

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.T187M

c.560C>T

Surrounding Variants

1 paper

NM_207421.4

p.T187R

c.560C>G

6 papers

NM_207421.4

p.T187fs

c.559_560fs

1 paper

NM_207421.4

p.I186M

c.558A>G

3 papers

NM_207421.4

p.I186insFs

c.558dupA

1 paper

NM_207421.4

p.L189R

c.566T>G

1 paper

NM_207421.4

p.E185Splc

c.554-2A>G

1 paper

NM_207421.4

p.Q191E

c.571C>G

1 paper

NM_207421.4

p.M192L

c.574A>C

1 paper

NM_207421.4

p.M192L

c.574A>T

1 paper

NM_207421.4

p.N195S

c.584A>G

2 papers

NM_207421.4

p.V196I

c.586G>A

1 paper

NM_207421.4

p.S200G

c.598A>G