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

1 paper

NM_001618.4

p.A291insFs

c.871_872insC

Surrounding Variants

1 paper

NM_001618.4

p.A291S

c.871G>T

1 paper

NM_001618.4

p.A291_L292insG

c.871_875ins3

1 paper

NM_001618.4

p.L292insFs

c.875_876insC

1 paper

NM_001618.4

p.F289F

c.867C>T

2 papers

NM_001618.4

p.L293F

c.877C>T

1 paper

NM_001618.4

p.L293_P294insC

c.877_881ins3

1 paper

NM_001618.4

p.L293I

c.877C>A

1 paper

NM_001618.4

p.L293H

c.878T>A

1 paper

NM_001618.4

p.V288_F289insA

c.862_866ins3

1 paper

NM_001618.4

p.V288M

c.862G>A

1 paper

NM_001618.4

p.C295_E296insA

c.883_887ins3

1 paper

NM_001618.4

p.M287insFs

c.859_860insT