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.I771L

c.2311A>C

Surrounding Variants

1 paper

NM_001618.4

p.I771insFs

c.2311_2312insT

1 paper

NM_001618.4

p.D770_I771insFs

c.2310_2311insC

1 paper

NM_001618.4

p.L769_D770delFs

c.2305_2309del5

1 paper

NM_001618.4

p.L769_D770del0

c.2305_2310del6

1 paper

NM_001618.4

p.L768_D770delFs

c.2302_2309del8

1 paper

NM_001618.4

p.I771insFs

c.2311_2312insAC

1 paper

NM_001618.4

p.I771ins1

c.2311_2312insAAC

2 papers

NM_001618.4

p.I771T

c.2312T>C

1 paper

NM_001618.4

p.I771N

c.2312T>A

1 paper

NM_001618.4

p.I771delFs

c.2311delT

1 paper

NM_001618.4

p.D766_L769del0

c.2296_2307del12

1 paper

NM_001618.4

p.D770E

c.2310C>G