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

41 papers

NM_001618.4

p.E988K

c.2962G>A

Surrounding Variants

15 papers

NM_001618.4

p.E988Q

c.2962G>C

1 paper

NM_001618.4

p.E988Splc

c.2964-1G>C

1 paper

NM_001618.4

p.E988Splc

c.2964-3C>G

19 papers

NM_001618.4

p.E988A

c.2963A>C

1 paper

NM_001618.4

p.Y989_I990insATT

c.2965_2969ins9

1 paper

NM_001618.4

p.V991_Y992insC

c.2971_2975ins3

1 paper

NM_001618.4

p.V991_Y992ins4

c.2971_2975ins12

1 paper

NM_001618.4

p.V991_Y992ins10

c.2971_2975ins30

1 paper

NM_001618.4

p.V991A

c.2972T>C

1 paper

NM_001618.4

p.Y992_D993ins4

c.2974_2978ins12

5 papers

NM_001618.4

p.D993G

c.2978A>G

3 papers

NM_001618.4

p.D993A

c.2978A>C