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.C321fs

c.961_962fs

Surrounding Variants

1 paper

NM_001618.4

p.C321S

c.961T>A

1 paper

NM_001618.4

p.C321F

c.962G>T

1 paper

NM_001618.4

p.K320N

c.960G>C

1 paper

NM_001618.4

p.C321Y

c.962G>A

1 paper

NM_001618.4

p.K320K

c.960G>A

1 paper

NM_001618.4

p.C321C

c.963T>C

1 paper

NM_001618.4

p.K320M

c.959A>T

2 papers

NM_001618.4

p.K320*

c.958A>T

1 paper

NM_001618.4

p.M322L

c.964A>T

1 paper

NM_001618.4

p.M322L

c.964A>C

1 paper

NM_001618.4

p.K320ins15

c.958_959ins45

1 paper

NM_001618.4

p.K320insFs

c.958_959ins17