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.L768_V773delFs

c.2303_2319del17

Surrounding Variants

3 papers

NM_001618.4

p.A774S

c.2320G>T

1 paper

NM_001618.4

p.A774ins2

c.2320_2321ins6

1 paper

NM_001618.4

p.A774insFs

c.2320_2321insC

1 paper

NM_001618.4

p.A774T

c.2320G>A

1 paper

NM_001618.4

p.A774insFs

c.2320_2321insG

1 paper

NM_001618.4

p.V773delFs

c.2319delC

1 paper

NM_001618.4

p.L769_V773del0

c.2306_2317del12

1 paper

NM_001618.4

p.E772delFs

c.2316delC

1 paper

NM_001618.4

p.L769_E772del0

c.2307_2315del9

1 paper

NM_001618.4

p.A774_Y775insFs

c.2322_2323insT

1 paper

NM_001618.4

p.A774_Y775insFs

c.2322_2323insG

1 paper

NM_001618.4

p.L768_V773delFs

c.2304_2319del16