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

3 papers

NM_001618.4

p.E763A

c.2288A>C

Surrounding Variants

1 paper

NM_001618.4

p.E763G

c.2288A>G

1 paper

NM_001618.4

p.E763insFs

c.2288_2289ins10

1 paper

NM_001618.4

p.K761_V762del1

c.2283_2285delACC

1 paper

NM_001618.4

p.E763D

c.2289A>C

1 paper

NM_001618.4

p.V762_E763delFs

c.2285_2288del4

1 paper

NM_001618.4

p.K761_E763del0

c.2282_2287del6

1 paper

NM_001618.4

p.V762V

c.2286G>T

1 paper

NM_001618.4

p.V762V

c.2286G>A

1 paper

NM_001618.4

p.V762delFs

c.2285delA

1 paper

NM_001618.4

p.M764L

c.2290A>T

1 paper

NM_001618.4

p.E763insFs

c.2288_2289ins10

2 papers

NM_001618.4

p.V762G

c.2285T>G