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.Q573delFs

c.1717delG

Surrounding Variants

1 paper

NM_001618.4

p.Q573*

c.1717C>T

1 paper

NM_001618.4

p.L574L

c.1722T>C

1 paper

NM_001618.4

p.Y570H

c.1708T>C

1 paper

NM_001618.4

p.D578N

c.1732G>A

1 paper

NM_001618.4

p.S568F

c.1703C>T

2 papers

NM_001618.4

p.K579R

c.1736A>G

1 paper

NM_001618.4

p.N581Y

c.1741A>T

1 paper

NM_001618.4

p.N581S

c.1742A>G

1 paper

NM_001618.4

p.V563fs

c.1687_1688fs

1 paper

NM_001618.4

p.I562V

c.1684A>G

1 paper

NM_001618.4

p.V560V

c.1680G>A

1 paper

NM_001618.4

p.V560G

c.1679T>G