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.N329T

c.986A>C

Surrounding Variants

1 paper

NM_001618.4

p.N329I

c.986A>T

2 papers

NM_001618.4

p.N329S

c.986A>G

1 paper

NM_001618.4

p.N329insFs

c.986_987ins44

1 paper

NM_001618.4

p.K320_P328delFs

c.959_984del26

1 paper

NM_001618.4

p.N329_R330insFs

c.987_988ins13

1 paper

NM_001618.4

p.N329_R330ins4

c.987_988ins12

1 paper

NM_001618.4

p.N329insFs

c.985_986insA

1 paper

NM_001618.4

p.N329ins3

c.986_987ins9

1 paper

NM_001618.4

p.N329K

c.987C>A

1 paper

NM_001618.4

p.N329delFs

c.985_986delTT

1 paper

NM_001618.4

p.T319_P328del0

c.956_982del27

1 paper

NM_001618.4

p.N329Y

c.985A>T