Varaico: Literature-Extracted Genetic Variants

PARP3

78 papers

RefSeq Summary

The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance ...

Pfam Domains

WGRaa 66–144UCSCWGR domain

PARP_regaa 183–319UCSCPoly(ADP-ribose) polymerase, regulatory domain

PARPaa 333–533UCSCPoly(ADP-ribose) polymerase catalytic domain

Gene Aliases

HGNC Name

poly(ADP-ribose) polymerase family member 3

HGNC Previous Symbol

ADPRTL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001003931.4

p.V173L

c.517G>C

Surrounding Variants

1 paper

NM_001003931.4

p.V173L

c.517G>T

1 paper

NM_001003931.4

p.G171A

c.512G>C

1 paper

NM_001003931.4

p.T175_V176insA

c.523_527ins3

1 paper

NM_001003931.4

p.T175A

c.523A>G

1 paper

NM_001003931.4

p.V176_T177insT

c.526_530ins3

1 paper

NM_001003931.4

p.T194I

c.581C>T

1 paper

NM_001003931.4

p.I196_F197insA

c.586_590ins3

1 paper

NM_001003931.4

p.F197_S198insT

c.589_593ins3

1 paper

NM_001003931.4

p.L208F

c.622C>T

1 paper

NM_001003931.4

p.D210Y

c.628G>T

1 paper

NM_001003931.4

p.K215N

c.645G>C

1 paper

NM_001003931.4

p.K215N

c.645G>T