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.S27delFs

c.80delC

Surrounding Variants

1 paper

NM_001618.4

p.S27N

c.80G>A

1 paper

NM_001618.4

p.I28delFs

c.82delT

1 paper

NM_001618.4

p.S27R

c.79A>C

1 paper

NM_001618.4

p.P29A

c.85C>G

1 paper

NM_001618.4

p.E26Q

c.76G>C

1 paper

NM_001618.4

p.P29P

c.87C>T

1 paper

NM_001618.4

p.C24F

c.71G>T

1 paper

NM_001618.4

p.C24S

c.71G>C

1 paper

NM_001618.4

p.D31N

c.91G>A

1 paper

NM_001618.4

p.C24S

c.70T>A

1 paper

NM_001618.4

p.D31G

c.92A>G

1 paper

NM_001618.4

p.K23R

c.68A>G