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.Q21H

c.63G>C

Surrounding Variants

1 paper

NM_001003931.4

p.Q21H

c.63G>T

1 paper

NM_001003931.4

p.K18*

c.52A>T

1 paper

NM_001003931.4

p.K4Q

c.10A>C

1 paper

NM_001003931.4

p.A2T

c.4G>A

1 paper

NM_001003931.4

p.M1fs

c.1_2fs

1 paper

NM_001003931.4

p.R47C

c.139C>T

1 paper

NM_001003931.4

p.G59insFs

c.175_176insA

1 paper

NM_001003931.4

p.G59fs

c.175_176fs

1 paper

NM_001003931.4

p.G59insFs

c.176_177insT

1 paper

NM_001003931.4

p.T60fs

c.178_179fs

1 paper

NM_001003931.4

p.D65N

c.193G>A

1 paper

NM_001003931.4

p.Y66insFs

c.196_197insA