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.L777L

c.2331G>A

Surrounding Variants

1 paper

NM_001618.4

p.L777L

c.2331G>T

1 paper

NM_001618.4

p.L777_L778insFs

c.2331_2332insT

1 paper

NM_001618.4

p.L777_L778ins2

c.2331_2332ins6

1 paper

NM_001618.4

p.S776_L777ins1

c.2328_2329insTCT

1 paper

NM_001618.4

p.L777_L778insFs

c.2331_2332insC

1 paper

NM_001618.4

p.L777_L778insFs

c.2331_2332insTC

1 paper

NM_001618.4

p.L777_L778ins2

c.2331_2332ins6

1 paper

NM_001618.4

p.L777_L778ins1

c.2331_2332insCTC

1 paper

NM_001618.4

p.L777_L778insFs

c.2331_2332ins8

1 paper

NM_001618.4

p.L777_L778ins3

c.2331_2332ins9

1 paper

NM_001618.4

p.L777_L778insFs

c.2331_2332ins8

1 paper

NM_001618.4

p.L777L

c.2331G>C