Varaico: Literature-Extracted Genetic Variants

PADI2

90 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 1–114UCSCProtein-arginine deiminase (PAD) N-terminal domain

PAD_Maa 116–274UCSCProtein-arginine deiminase (PAD) middle domain

PADaa 284–662UCSCProtein-arginine deiminase (PAD)

Gene Aliases

HGNC Name

peptidyl arginine deiminase 2

HGNC Alias Symbols

KIAA0994; PDI2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007365.3

p.Q454R

c.1361A>G

Surrounding Variants

1 paper

NM_007365.3

p.R448C

c.1342C>T

1 paper

NM_007365.3

p.V469delFs

c.1405delC

1 paper

NM_007365.3

p.G470V

c.1409G>T

1 paper

NM_007365.3

p.L490L

c.1470C>T

1 paper

NM_007365.3

p.K499R

c.1496A>G

2 papers

NM_007365.3

p.R502Q

c.1505G>A

1 paper

NM_007365.3

p.D507D

c.1521C>T

1 paper

NM_007365.3

p.M514V

c.1540A>G

1 paper

NM_007365.3

p.G517Splc

c.1549+134G>A

1 paper

NM_007365.3

p.G517Splc

c.1549+863A>T

1 paper

NM_007365.3

p.R428H

c.1283G>A

1 paper

NM_007365.3

p.G421S

c.1261G>A