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.E12A

c.35A>C

Surrounding Variants

1 paper

NM_001618.4

p.E12*

c.34G>T

1 paper

NM_001618.4

p.E12_Y13insFs

c.36_37ins4

1 paper

NM_001618.4

p.E12delFs

c.35delT

1 paper

NM_001618.4

p.V11V

c.33C>A

1 paper

NM_001618.4

p.Y13C

c.38A>G

1 paper

NM_001618.4

p.V11I

c.31G>A

1 paper

NM_001618.4

p.A14P

c.40G>C

1 paper

NM_001618.4

p.A14T

c.40G>A

1 paper

NM_001618.4

p.A14V

c.41C>T

2 papers

NM_001618.4

p.K15*

c.43A>T

1 paper

NM_001618.4

p.K15R

c.44A>G

1 paper

NM_001618.4

p.Y9C

c.26A>G