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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ART4

ART4

85 papers

RefSeq Summary

This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally....

Pfam Domains

ARTaa 55–277UCSCNAD:arginine ADP-ribosyltransferase

Gene Aliases

HGNC Name

ADP-ribosyltransferase 4

HGNC Previous Symbol

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 102 variants

13 papers

chr12:14840975 C>A

NM_021071.4

p.G108V

c.323G>T

ART

Exome: 0.2% (AC=2367, hom=58)Genome: 1.5% (AC=2331, hom=60)18 overlapping SVs

13 papers

chr12:14840948 G>A

NM_021071.4

p.T117I

c.350C>T

ART

Exome: 0.2% (AC=2545, hom=61)Genome: 1.7% (AC=2638, hom=86)18 overlapping SVs

11 papers

chr12:14840505 C>T

NM_021071.4

p.D265N

c.793G>A

ART

Exome: 37.7% (AC=550919, hom=106733)Genome: 34.0% (AC=51642, hom=9319)18 overlapping SVs

9 papers

chr12:14840920 A>G

NM_021071.4

p.Y126Y

c.378T>C

ART

Exome: 35.5% (AC=518609, hom=95042)Genome: 32.1% (AC=48816, hom=8334)18 overlapping SVs

9 papers

chr12:14829418 G>C

NM_021071.4

p.L300V

c.898C>G

Exome: 10.6% (AC=154611, hom=9864)Genome: 12.0% (AC=18278, hom=1312)19 overlapping SVs

7 papers

chr12:14840853 G>T

NM_021071.4

p.Q149K

c.445C>A

ART

Exome: 0.0% (AC=512, hom=2)Genome: 0.3% (AC=461, hom=1)18 overlapping SVs

7 papers

chr12:14840674 G>A

NM_021071.4

p.L208L

c.624C>T

ART

Exome: 37.7% (AC=550984, hom=106726)Genome: 33.9% (AC=51616, hom=9314)18 overlapping SVs

6 papers

chr12:14841113 A>G

NM_021071.4

p.F62S

c.185T>C

ART

Exome: 0.1% (AC=1038, hom=1)Genome: 0.0% (AC=64, hom=0)18 overlapping SVs

5 papers

chr12:14840774 A>T

NM_021071.4

p.I175N

c.524T>A

ART

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

4 papers

chr12:14840856 G>A

NM_021071.4

p.Q148*

c.442C>T

ART

Exome: 0.0% (AC=3, hom=1)Genome: n/a18 overlapping SVs

3 papers

chr12:14843100 A>G

NM_021071.4

p.I5T

c.14T>C

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=7, hom=0)18 overlapping SVs

2 papers

chr12:14843092 A>G

NM_021071.4

p.C8R

c.22T>C

Exome: 0.0% (AC=92, hom=0)Genome: 0.0% (AC=62, hom=0)18 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."