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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RGS5

Variant:p.R15W

RGS5

39 papers

RefSeq Summary

This locus represents naturally occurring readthrough transcription between the neighboring LOC127814295 (uncharacterized LOC127814295) and RGS5 (regulator of G-protein signaling 5) genes on chromosom...

Pfam Domains

RGSaa 64–179UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

regulator of G protein signaling 5

HGNC Previous Names

regulator of G-protein signalling 5; regulator of G-protein signaling 5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:163202793 T>A

NM_003617.4

p.R15W

c.43A>T

exact variant not in gnomAD223 overlapping SVs

Surrounding Variants

1 paper

chr1:163202795 T>C

NM_003617.4

p.E14G

c.41A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a223 overlapping SVs

1 paper

chr1:163202796 C>T

NM_003617.4

p.E14K

c.40G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a223 overlapping SVs

1 paper

chr1:163202784 G>C

NM_003617.4

p.R15Splc

c.44+8C>G

Exome: 15.8% (AC=231127, hom=19274)Genome: 13.8% (AC=21054, hom=1668)223 overlapping SVs

1 paper

chr1:163202817 C>G

NM_003617.4

p.A7P

c.19G>C

exact variant not in gnomAD223 overlapping SVs

1 paper

chr1:163202819 G>A

NM_003617.4

p.A6V

c.17C>T

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)223 overlapping SVs

1 paper

chr1:163202825 C>T

NM_003617.4

p.G4E

c.11G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a223 overlapping SVs

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