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.S776ins1

c.2326_2327insTGT

Surrounding Variants

2 papers

NM_001618.4

p.S776G

c.2326A>G

1 paper

NM_001618.4

p.I771_Y775ins1

c.2313_2324dup12

1 paper

NM_001618.4

p.S776insFs

c.2327_2328insTC

1 paper

NM_001618.4

p.Y775_S776insFs

c.2325_2326insG

1 paper

NM_001618.4

p.S776_L777ins1

c.2328_2329insCAG

1 paper

NM_001618.4

p.S776_L777insFs

c.2328_2329insC

1 paper

NM_001618.4

p.S776_L777ins1

c.2328_2329insCTC

1 paper

NM_001618.4

p.S776S

c.2328T>C

1 paper

NM_001618.4

p.A760_S776del0

c.2280_2327del48

1 paper

NM_001618.4

p.Y775C

c.2324A>G

1 paper

NM_001618.4

p.Y775S

c.2324A>C

1 paper

NM_001618.4

p.I771_A774delFs

c.2312_2322del11