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.P369_P370insA

c.1105_1109ins3

Surrounding Variants

1 paper

NM_001618.4

p.P369A

c.1105C>G

1 paper

NM_001618.4

p.T368_P369insFs

c.1104_1105insC

3 papers

NM_001618.4

p.T368M

c.1103C>T

1 paper

NM_001618.4

p.P370_P371insC

c.1108_1112ins3

1 paper

NM_001618.4

p.T368A

c.1102A>G

1 paper

NM_001618.4

p.T368insFs

c.1102_1103insC

1 paper

NM_001618.4

p.T368_P369insA

c.1102_1106ins3

3 papers

NM_001618.4

p.A367delFs

c.1100delG

1 paper

NM_001618.4

p.A367insFs

c.1099_1100insGC

1 paper

NM_001618.4

p.P370Q

c.1109C>A

1 paper

NM_001618.4

p.P370_P371insFs

c.1110_1111insC

1 paper

NM_001618.4

p.A366delFs

c.1098delC