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.I567T

c.1700T>C

Surrounding Variants

1 paper

NM_007365.3

p.P570P

c.1710C>T

1 paper

NM_007365.3

p.A571T

c.1711G>A

1 paper

NM_007365.3

p.L559P

c.1676T>C

1 paper

NM_007365.3

p.L555L

c.1665C>G

1 paper

NM_007365.3

p.L555fs

c.1663_1664fs

1 paper

NM_007365.3

p.R580H

c.1739G>A

2 papers

NM_007365.3

p.R552C

c.1654C>T

1 paper

NM_007365.3

p.L598R

c.1793T>G

1 paper

NM_007365.3

p.G605R

c.1813G>C

1 paper

NM_007365.3

p.G605R

c.1813G>A

1 paper

NM_007365.3

p.C647S

c.1939T>A

1 paper

NM_007365.3

p.C647S

c.1940G>C