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.L1005V

c.3013C>G

Surrounding Variants

1 paper

NM_001618.4

p.L1005_K1006ins8

c.3013_3017ins24

1 paper

NM_001618.4

p.K1004T

c.3011A>C

1 paper

NM_001618.4

p.F1007_N1008insCA

c.3019_3023ins6

1 paper

NM_001618.4

p.F1007L

c.3019T>C

1 paper

NM_001618.4

p.L1003_K1004insC

c.3007_3011ins3

1 paper

NM_001618.4

p.L1003_K1004insAC

c.3007_3011ins6

1 paper

NM_001618.4

p.F1007L

c.3021C>G

1 paper

NM_001618.4

p.F1007L

c.3021C>A

1 paper

NM_001618.4

p.N1008_F1009ins12

c.3022_3026ins36

1 paper

NM_001618.4

p.F1009_K1010ins12

c.3025_3029ins36

1 paper

NM_001618.4

p.K1010_T1011insGG

c.3028_3032ins6

1 paper

NM_001618.4

p.K1010_T1011insGGG

c.3028_3032ins9