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.R591H

c.1772G>A

Surrounding Variants

14 papers

NM_001618.4

p.R591C

c.1771C>T

2 papers

NM_001618.4

p.V592L

c.1774G>T

2 papers

NM_001618.4

p.V592L

c.1774G>C

1 paper

NM_001618.4

p.S588F

c.1763C>T

1 paper

NM_001618.4

p.V595L

c.1783G>T

1 paper

NM_001618.4

p.R587M

c.1760G>T

1 paper

NM_001618.4

p.G597S

c.1789G>A

1 paper

NM_001618.4

p.I585V

c.1753A>G

1 paper

NM_001618.4

p.Y583delFs

c.1747delA

1 paper

NM_001618.4

p.K600Q

c.1798A>C

1 paper

NM_001618.4

p.L601P

c.1802T>C

1 paper

NM_001618.4

p.E602K

c.1804G>A