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

24 papers

NM_001618.4

p.K940R

c.2819A>G

Surrounding Variants

1 paper

NM_001618.4

p.K940Q

c.2818A>C

2 papers

NM_001618.4

p.S939S

c.2817C>T

1 paper

NM_001618.4

p.S939C

c.2815A>T

1 paper

NM_001618.4

p.S936_H937delFs

c.2808_2811del4

4 papers

NM_001618.4

p.K943Q

c.2827A>C

1 paper

NM_001618.4

p.K943M

c.2828A>T

1 paper

NM_001618.4

p.G944D

c.2831G>A

1 paper

NM_001618.4

p.S936_H937insG

c.2806_2810ins3

2 papers

NM_001618.4

p.K945N

c.2835G>T

2 papers

NM_001618.4

p.K945N

c.2835G>C

2 papers

NM_001618.4

p.K933N

c.2799G>T

2 papers

NM_001618.4

p.K933N

c.2799G>C