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.E3K

c.7G>A

Surrounding Variants

1 paper

NM_001618.4

p.A2G

c.5C>G

1 paper

NM_001618.4

p.A2T

c.4G>A

1 paper

NM_001618.4

p.M1insFs

c.2_3insT

1 paper

NM_001618.4

p.M1insFs

c.1_2insAA

1 paper

NM_001618.4

p.M1R

c.2T>G

1 paper

NM_001618.4

p.S4S

c.12T>A

1 paper

NM_001618.4

p.M1K

c.2T>A

1 paper

NM_001618.4

p.M1V

c.1A>G

1 paper

NM_001618.4

p.S5L

c.14C>T

5 papers

NM_001618.4

p.S5W

c.14C>G

1 paper

NM_001618.4

p.S5insFs

c.13dupT

1 paper

NM_001618.4

p.S5Fs

c.15delinsATFs