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.Y310_C311insG

c.928_932ins3

Surrounding Variants

1 paper

NM_001618.4

p.Y310delFs

c.929delT

1 paper

NM_001618.4

p.C311_T312insC

c.931_935ins3

1 paper

NM_001618.4

p.C311S

c.931T>A

1 paper

NM_001618.4

p.C311S

c.932G>C

1 paper

NM_001618.4

p.T312_G313insA

c.934_938ins3

1 paper

NM_001618.4

p.D307delFs

c.920delT

1 paper

NM_001618.4

p.T312_G313insFs

c.936_937insG

1 paper

NM_001618.4

p.D307Y

c.919G>T

2 papers

NM_001618.4

p.D307N

c.919G>A

2 papers

NM_001618.4

p.G313E

c.938G>A

2 papers

NM_001618.4

p.D314G

c.941A>G

1 paper

NM_001618.4

p.D314D

c.942C>T