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.C298_S299insCA

c.892_896ins6

Surrounding Variants

1 paper

NM_001618.4

p.C298_S299insC

c.892_896ins3

1 paper

NM_001618.4

p.C298*

c.894C>A

1 paper

NM_001618.4

p.S299_G300insT

c.895_899ins3

1 paper

NM_001618.4

p.E296D

c.888G>T

1 paper

NM_001618.4

p.E296D

c.888G>C

2 papers

NM_001618.4

p.S299L

c.896C>T

1 paper

NM_001618.4

p.S299*

c.896C>A

1 paper

NM_001618.4

p.E296*

c.886G>T

1 paper

NM_001618.4

p.G300_Q301insG

c.898_902ins3

1 paper

NM_001618.4

p.E296_E297insG

c.886_890ins3

1 paper

NM_001618.4

p.E296_E297insCA

c.886_890ins6

1 paper

NM_001618.4

p.S299delFs

c.897delC