Varaico: Literature-Extracted Genetic Variants

PARP4

244 papers

RefSeq Summary

This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly...

Pfam Domains

BRCTaa 1–81UCSCBRCA1 C Terminus (BRCT) domain

WGR-like_PARP4aa 144–257UCSCPARP4 WGR-like domain

PARPaa 389–566UCSCPoly(ADP-ribose) polymerase catalytic domain

VITaa 623–733UCSCVault protein inter-alpha-trypsin domain

VWAaa 876–1042UCSCvon Willebrand factor type A domain

PARP4_MVP-IDaa 1575–1721UCSCPARP4 MVP-ID C-terminal domain

Gene Aliases

HGNC Name

poly(ADP-ribose) polymerase family member 4

HGNC Previous Symbol

ADPRTL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006437.4

p.L1197insFs

c.3590_3591insCT

Surrounding Variants

1 paper

NM_006437.4

p.L1197fs

c.3589_3590fs

1 paper

NM_006437.4

p.I1198fs

c.3592_3593fs

1 paper

NM_006437.4

p.E1196insFs

c.3587_3588insGT

1 paper

NM_006437.4

p.P1187H

c.3560C>A

1 paper

NM_006437.4

p.P1215L

c.3644C>T

1 paper

NM_006437.4

p.V1219I

c.3655G>A

1 paper

NM_006437.4

p.R1181_D1182Splc

c.3543+44T>C

18 papers

NM_006437.4

p.T1170I

c.3509C>T

1 paper

NM_006437.4

p.S1157fs

c.3469_3470fs

1 paper

NM_006437.4

p.R1130Q

c.3389G>A

1 paper

NM_006437.4

p.R1130G

c.3388C>G

1 paper

NM_006437.4

p.K1126R

c.3377A>G