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.Q224R

c.671A>G

Surrounding Variants

1 paper

NM_001003931.4

p.K223R

c.668A>G

1 paper

NM_001003931.4

p.M216I

c.648G>A

1 paper

NM_001003931.4

p.M216I

c.648G>C

1 paper

NM_001003931.4

p.M216I

c.648G>T

1 paper

NM_001003931.4

p.M216V

c.646A>G

1 paper

NM_001003931.4

p.K215N

c.645G>C

1 paper

NM_001003931.4

p.K215N

c.645G>T

1 paper

NM_001003931.4

p.E234_A235delFs

c.702_705del4

3 papers

NM_001003931.4

p.A235V

c.704C>T

1 paper

NM_001003931.4

p.T244M

c.731C>T

1 paper

NM_001003931.4

p.E251K

c.751G>A

1 paper

NM_001003931.4

p.S254P

c.760T>C