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.G499D

c.1496G>A

Surrounding Variants

1 paper

NM_207421.4

p.L504P

c.1511T>C

1 paper

NM_207421.4

p.A505T

c.1513G>A

1 paper

NM_207421.4

p.S506fs

c.1516_1517fs

3 papers

NM_207421.4

p.P507insFs

c.1521dupC

1 paper

NM_207421.4

p.S508G

c.1522A>G

7 papers

NM_207421.4

p.S508fs

c.1522_1523fs

1 paper

NM_207421.4

p.A509T

c.1525G>A

1 paper

NM_207421.4

p.C510Y

c.1529G>A

1 paper

NM_207421.4

p.K512N

c.1536A>C

1 paper

NM_207421.4

p.K512N

c.1536A>T

1 paper

NM_207421.4

p.F514L

c.1540T>C

1 paper

NM_207421.4

p.F514L

c.1542C>A