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.A379D

c.1136C>A

Surrounding Variants

1 paper

NM_001618.4

p.A379insFs

c.1135_1136insA

1 paper

NM_001618.4

p.N381_S382insC

c.1141_1145ins3

1 paper

NM_001618.4

p.N381_S382insAT

c.1141_1145ins6

13 papers

NM_001618.4

p.P377S

c.1129C>T

1 paper

NM_001618.4

p.P377_A378insA

c.1129_1133ins3

1 paper

NM_001618.4

p.P377_A378insAG

c.1129_1133ins6

1 paper

NM_001618.4

p.S382Y

c.1145C>A

2 papers

NM_001618.4

p.S375L

c.1124C>T

18 papers

NM_001618.4

p.S383Y

c.1148C>A

1 paper

NM_001618.4

p.S375_A376insG

c.1123_1127ins3

1 paper

NM_001618.4

p.S383delins

c.1148_1149delinsAA

1 paper

NM_001618.4

p.P370_T373delFs

c.1110_1119del10