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.K347_L348ins5

c.1039_1043ins15

Surrounding Variants

1 paper

NM_001618.4

p.K347_L348insC

c.1039_1043ins3

1 paper

NM_001618.4

p.K347_L348insFs

c.1041_1042insT

1 paper

NM_001618.4

p.L348_K349insT

c.1042_1046ins3

1 paper

NM_001618.4

p.K347delFs

c.1039delT

1 paper

NM_001618.4

p.L345_K346insG

c.1033_1037ins3

1 paper

NM_001618.4

p.K349N

c.1047G>T

1 paper

NM_001618.4

p.K349fs

c.1045_1046fs

1 paper

NM_001618.4

p.K349insFs

c.1046dupA

1 paper

NM_001618.4

p.K349N

c.1047G>C

1 paper

NM_001618.4

p.Y344insFs

c.1031_1032insC

1 paper

NM_001618.4

p.V350_K351insG

c.1048_1052ins3

1 paper

NM_001618.4

p.S343fs

c.1027_1028fs