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.L768Q

c.2303T>A

Surrounding Variants

1 paper

NM_001618.4

p.N767delFs

c.2301delG

1 paper

NM_001618.4

p.M764_L768delFs

c.2292_2302del11

1 paper

NM_001618.4

p.K761_L768del0

c.2282_2302del21

1 paper

NM_001618.4

p.L768_L769insFs

c.2304_2305insC

1 paper

NM_001618.4

p.L768L

c.2304G>C

1 paper

NM_001618.4

p.L768L

c.2304G>A

1 paper

NM_001618.4

p.L768delFs

c.2303delA

1 paper

NM_001618.4

p.L768L

c.2302C>T

1 paper

NM_001618.4

p.L765_N767delFs

c.2295_2301del7

1 paper

NM_001618.4

p.L769L

c.2305C>T

1 paper

NM_001618.4

p.L769V

c.2305C>G

1 paper

NM_001618.4

p.N767_L768ins5

c.2301_2302ins15