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

6 papers

NM_006437.4

p.H490Q

c.1470C>A

Surrounding Variants

6 papers

NM_006437.4

p.H490Q

c.1470C>G

1 paper

NM_006437.4

p.T494K

c.1481C>A

7 papers

NM_006437.4

p.G496V

c.1487G>T

1 paper

NM_006437.4

p.T484A

c.1450A>G

1 paper

NM_006437.4

p.C503S

c.1507T>A

1 paper

NM_006437.4

p.D517N

c.1549G>A

1 paper

NM_006437.4

p.S534S

c.1602G>A

1 paper

NM_006437.4

p.Y551F

c.1652A>T

1 paper

NM_006437.4

p.P587S

c.1759C>T

1 paper

NM_006437.4

p.F589L

c.1765T>C

1 paper

NM_006437.4

p.F589L

c.1767T>G

1 paper

NM_006437.4

p.F589L

c.1767T>A