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.K134M

c.401A>T

Surrounding Variants

1 paper

NM_001003931.4

p.A138T

c.412G>A

1 paper

NM_001003931.4

p.E126A

c.377A>C

1 paper

NM_001003931.4

p.H146N

c.436C>A

2 papers

NM_001003931.4

p.H146Y

c.436C>T

1 paper

NM_001003931.4

p.P147S

c.439C>T

1 paper

NM_001003931.4

p.P147L

c.440C>T

1 paper

NM_001003931.4

p.D120E

c.360T>A

1 paper

NM_001003931.4

p.D120E

c.360T>G

1 paper

NM_001003931.4

p.R117K

c.350G>A

1 paper

NM_001003931.4

p.E154K

c.460G>A

1 paper

NM_001003931.4

p.V166G

c.497T>G

1 paper

NM_001003931.4

p.G171A

c.512G>C