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.K703delFs

c.2107delT

Surrounding Variants

1 paper

NM_001618.4

p.R704S

c.2112G>T

1 paper

NM_001618.4

p.I706insFs

c.2117_2118insC

1 paper

NM_001618.4

p.S702N

c.2105G>A

1 paper

NM_001618.4

p.L701insFs

c.2102_2103insTG

1 paper

NM_001618.4

p.L701insFs

c.2102_2103insG

1 paper

NM_001618.4

p.K700_L701insFs

c.2100_2101insGC

1 paper

NM_001618.4

p.L701P

c.2102T>C

1 paper

NM_001618.4

p.Q707R

c.2120A>G

1 paper

NM_001618.4

p.K700_L701insFs

c.2100_2101insG

1 paper

NM_001618.4

p.K700insFs

c.2099_2100insAG

1 paper

NM_001618.4

p.A708insFs

c.2122_2123insC

1 paper

NM_001618.4

p.K700_L701insFs

c.2100_2101insC