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

15 papers

NM_006437.4

p.Q1059R

c.3176A>G

Surrounding Variants

1 paper

NM_006437.4

p.W1058C

c.3174G>C

1 paper

NM_006437.4

p.V1056I

c.3166G>A

10 papers

NM_006437.4

p.V1065A

c.3194T>C

1 paper

NM_006437.4

p.P1066P

c.3198C>T

2 papers

NM_006437.4

p.P1049L

c.3146C>T

1 paper

NM_006437.4

p.P1076P

c.3228G>A

1 paper

NM_006437.4

p.I1039_E1040delFs

c.3116_3119del4

1 paper

NM_006437.4

p.I1039fs

c.3115_3116fs

20 papers

NM_006437.4

p.I1039T

c.3116T>C

6 papers

NM_006437.4

p.L1080F

c.3238C>T

4 papers

NM_006437.4

p.L1080R

c.3239T>G

2 papers

NM_006437.4

p.Q1095Q

c.3285G>A