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.T373_A374insC

c.1117_1121ins3

Surrounding Variants

1 paper

NM_001618.4

p.T373A

c.1117A>G

1 paper

NM_001618.4

p.T373insFs

c.1117_1118insC

1 paper

NM_001618.4

p.T373_A374insGA

c.1117_1121ins6

1 paper

NM_001618.4

p.T373_A374insGAG

c.1117_1121ins9

1 paper

NM_001618.4

p.P369_P371delFs

c.1105_1111del7

1 paper

NM_001618.4

p.A363_P371del0

c.1088_1111del24

1 paper

NM_001618.4

p.A367_S372delFs

c.1101_1114del14

1 paper

NM_001618.4

p.A367_S372del0

c.1100_1114del15

1 paper

NM_001618.4

p.S372_T373insT

c.1114_1118ins3

1 paper

NM_001618.4

p.S372P

c.1114T>C

1 paper

NM_001618.4

p.P371delFs

c.1111delG

1 paper

NM_001618.4

p.P371delFs

c.1111_1112delGG