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.K352_Q353insC

c.1054_1058ins3

Surrounding Variants

1 paper

NM_001618.4

p.K352fs

c.1054_1055fs

1 paper

NM_001618.4

p.K352R

c.1055A>G

7 papers

NM_001618.4

p.K352K

c.1056A>G

8 papers

NM_001618.4

p.K352_Q353insFs

c.1056_1057insG

2 papers

NM_001618.4

p.Q353fs

c.1057_1058fs

2 papers

NM_001618.4

p.K352_Q353insFs

c.1056_1057insA

2 papers

NM_001618.4

p.K351delFs

c.1051delT

1 paper

NM_001618.4

p.K351*

c.1051A>T

1 paper

NM_001618.4

p.V350_K351insFs

c.1050_1051insA

1 paper

NM_001618.4

p.V350V

c.1050T>A

1 paper

NM_001618.4

p.Q353P

c.1058A>C

1 paper

NM_001618.4

p.V350A

c.1049T>C