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.M615fs

c.1843_1844fs

Surrounding Variants

1 paper

NM_001618.4

p.H613Q

c.1839C>G

1 paper

NM_001618.4

p.H613Q

c.1839C>A

1 paper

NM_001618.4

p.E612D

c.1836G>T

1 paper

NM_001618.4

p.E612*

c.1834G>T

1 paper

NM_001618.4

p.I611T

c.1832T>C

3 papers

NM_001618.4

p.E619K

c.1855G>A

1 paper

NM_001618.4

p.A610V

c.1829C>T

1 paper

NM_001618.4

p.D609insFs

c.1826_1827insT

1 paper

NM_001618.4

p.K621R

c.1862A>G

1 paper

NM_001618.4

p.E608K

c.1822G>A

1 paper

NM_001618.4

p.T622I

c.1865C>T

1 paper

NM_001618.4

p.T622delFs

c.1864delT