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

1–12 of 3365 variants

261 papers

NM_001618.4

p.V762A

c.2285T>C

41 papers

NM_001618.4

p.E988K

c.2962G>A

24 papers

NM_001618.4

p.K940R

c.2819A>G

19 papers

NM_001618.4

p.E988A

c.2963A>C

18 papers

NM_001618.4

p.S383Y

c.1148C>A

15 papers

NM_001618.4

p.G558S

c.1672G>A

15 papers

NM_001618.4

p.E988Q

c.2962G>C

14 papers

NM_001618.4

p.R591C

c.1771C>T

13 papers

NM_001618.4

p.P377S

c.1129C>T

12 papers

NM_001618.4

p.A284A

c.852T>C

10 papers

NM_001618.4

p.L713F

c.2137C>T

9 papers

NM_001618.4

p.A625T

c.1873G>A