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.I712insFs

c.2134_2135insC

Surrounding Variants

1 paper

NM_001618.4

p.I712insFs

c.2135_2136insC

1 paper

NM_001618.4

p.S711insFs

c.2131_2132insC

10 papers

NM_001618.4

p.L713F

c.2137C>T

1 paper

NM_001618.4

p.Y710insFs

c.2129_2130insC

1 paper

NM_001618.4

p.A708del1

c.2122_2124delGGC

1 paper

NM_001618.4

p.S714_E715insFs

c.2142_2143insC

1 paper

NM_001618.4

p.A709T

c.2125G>A

1 paper

NM_001618.4

p.A708insFs

c.2122_2123insC

2 papers

NM_001618.4

p.V716delFs

c.2146delC

1 paper

NM_001618.4

p.V716fs

c.2146_2147fs

1 paper

NM_001618.4

p.Q707R

c.2120A>G

1 paper

NM_001618.4

p.I706insFs

c.2117_2118insC