Varaico: Literature-Extracted Genetic Variants

PARP1

1,199 papers

RefSeq Summary

This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved i...

Pfam Domains

zf-PARPaa 12–89UCSCPoly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region

zf-PARPaa 116–199UCSCPoly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region

PADR1_Naa 231–290UCSCPADR1, N-terminal helical domain

Zn_ribbon_PADR1aa 291–331UCSCPADR1 domain, zinc ribbon fold

BRCTaa 385–462UCSCBRCA1 C Terminus (BRCT) domain

WGRaa 553–633UCSCWGR domain

Gene Aliases

HGNC Name

poly(ADP-ribose) polymerase 1

HGNC Previous Symbols

PPOL; ADPRT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_001618.4

p.A284A

c.852T>C

Surrounding Variants

2 papers

NM_001618.4

p.A284A

c.852T>G

1 paper

NM_001618.4

p.A284A

c.852T>A

1 paper

NM_001618.4

p.D285_G286insG

c.853_857ins3

1 paper

NM_001618.4

p.A284insFs

c.850_851insC

1 paper

NM_001618.4

p.A284_D285insG

c.850_854ins3

1 paper

NM_001618.4

p.V283_A284insFs

c.849_850insC

1 paper

NM_001618.4

p.V283A

c.848T>C

1 paper

NM_001618.4

p.R282insFs

c.846dupA

1 paper

NM_001618.4

p.G286D

c.857G>A

1 paper

NM_001618.4

p.R282R

c.846A>C

1 paper

NM_001618.4

p.R282Q

c.845G>A

1 paper

NM_001618.4

p.M287insFs

c.859_860insT