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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DRD5

DRD5

166 papers

RefSeq Summary

This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions...

Pfam Domains

7tm_1aa 57–359UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

dopamine receptor D5

HGNC Previous Symbol

DRD1L2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 120 variants

8 papers

chr4:9782291 C>T

NM_000798.5

p.L88F

c.262C>T

7tm_1

Exome: 0.7% (AC=10961, hom=55)Genome: 0.5% (AC=766, hom=12)36 overlapping SVs

6 papers

chr4:9782918 A>C

NM_000798.5

p.T297P

c.889A>C

7tm_1

Exome: 0.0% (AC=4, hom=0)Genome: n/a36 overlapping SVs

5 papers

chr4:9783018 C>A

NM_000798.5

p.P330Q

c.989C>A

7tm_1

Exome: 0.4% (AC=6329, hom=149)Genome: 1.1% (AC=1659, hom=38)36 overlapping SVs

5 papers

chr4:9783034 C>A

NM_000798.5

p.C335*

c.1005C>A

7tm_1

Exome: 0.3% (AC=3940, hom=12)Genome: 0.2% (AC=258, hom=1)36 overlapping SVs

4 papers

chr4:9782311 C>T

NM_000798.5

p.V94V

c.282C>T

7tm_1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)36 overlapping SVs

4 papers

chr4:9782614 C>T

NM_000798.5

p.N195N

c.585C>T

7tm_1

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=2, hom=0)36 overlapping SVs

4 papers

chr4:9783080 A>G

NM_000798.5

p.N351D

c.1051A>G

7tm_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a36 overlapping SVs

3 papers

chr4:9782685 C>T

NM_000798.5

p.S219F

c.656C>T

7tm_1

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=10, hom=0)36 overlapping SVs

3 papers

chr4:9782993 T>C

NM_000798.5

p.C322R

c.964T>C

7tm_1

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)36 overlapping SVs

3 papers

chr4:9783007 C>T

NM_000798.5

p.P326P

c.978C>T

7tm_1

Exome: 65.3% (AC=954066, hom=312084)Genome: 64.2% (AC=97611, hom=31580)36 overlapping SVs

3 papers

chr4:9783019 G>A

NM_000798.5

p.P330P

c.990G>A

7tm_1

Exome: 0.0% (AC=503, hom=4)Genome: 0.3% (AC=497, hom=5)36 overlapping SVs

2 papers

chr4:9782095 G>A

NM_000798.5

p.A22A

c.66G>A

Exome: 0.0% (AC=470, hom=4)Genome: 0.3% (AC=511, hom=4)36 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."