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.R330W

c.988C>T

Surrounding Variants

1 paper

NM_001618.4

p.R330ins1

c.988_989insTTT

1 paper

NM_001618.4

p.R330insFs

c.988_989ins11

1 paper

NM_001618.4

p.R330insFs

c.988_989ins31

1 paper

NM_001618.4

p.R330insFs

c.988_989insG

1 paper

NM_001618.4

p.R330insFs

c.988_989insGG

1 paper

NM_001618.4

p.R330_K331insT

c.988_992ins3

1 paper

NM_001618.4

p.R330R

c.988C>A

1 paper

NM_001618.4

p.P328_N329del1

c.984_986delTTG

1 paper

NM_001618.4

p.R330L

c.989G>T

1 paper

NM_001618.4

p.R330ins1

c.989_990insATT

1 paper

NM_001618.4

p.R330P

c.989G>C

1 paper

NM_001618.4

p.R330Q

c.989G>A