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.G918S

c.2752G>A

Surrounding Variants

1 paper

NM_006437.4

p.F917F

c.2751C>T

1 paper

NM_006437.4

p.G920Splc

c.2758+9G>A

1 paper

NM_006437.4

p.Q910Q

c.2730G>A

11 papers

NM_006437.4

p.A899T

c.2695G>A

1 paper

NM_006437.4

p.G889V

c.2666G>T

1 paper

NM_006437.4

p.S885C

c.2653A>T

1 paper

NM_006437.4

p.C883R

c.2647T>C

1 paper

NM_006437.4

p.D882Y

c.2644G>T

3 papers

NM_006437.4

p.S873N

c.2618G>A

1 paper

NM_006437.4

p.L868R

c.2603T>G

1 paper

NM_006437.4

p.V866D

c.2597T>A

1 paper

NM_006437.4

p.L858R

c.2573T>G