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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RGS1

RGS1

54 papers

RefSeq Summary

This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called t...

Pfam Domains

RGSaa 85–199UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

regulator of G protein signaling 1

HGNC Previous Symbol

IER1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 169 variants

2 papers

chr1:192575875 G>A

NM_002922.4

p.G28E

c.83G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a172 overlapping SVs

2 papers

chr1:192575907 C>CA

NM_002922.4

p.R41insFs

c.121dupA

Exome: 0.0% (AC=1, hom=0)Genome: n/a172 overlapping SVs

2 papers

chr1:192576824 T>C

NM_002922.4

p.L90P

c.269T>C

RGS

Exome: 0.0% (AC=1, hom=0)Genome: n/a172 overlapping SVs

2 papers

chr1:192579159 G>A

NM_002922.4

p.R156Q

c.467G>A

RGS

Exome: 0.0% (AC=239, hom=0)Genome: 0.0% (AC=31, hom=0)172 overlapping SVs

1 paper

chr1:192575796 C>A

NM_002922.4

p.R2S

c.4C>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)172 overlapping SVs

1 paper

chr1:192575796 C>G

NM_002922.4

p.R2G

c.4C>G

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=4, hom=0)172 overlapping SVs

1 paper

chr1:192575796 C>T

NM_002922.4

p.R2C

c.4C>T

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=1, hom=0)172 overlapping SVs

1 paper

chr1:192575797 G>A

NM_002922.4

p.R2H

c.5G>A

Exome: 0.0% (AC=168, hom=1)Genome: 0.0% (AC=3, hom=0)172 overlapping SVs

1 paper

chr1:192575799 G>A

NM_002922.4

p.A3T

c.7G>A

Exome: 0.0% (AC=103, hom=0)Genome: 0.1% (AC=91, hom=1)172 overlapping SVs

1 paper

chr1:192575799 G>T

NM_002922.4

p.A3S

c.7G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a172 overlapping SVs

1 paper

chr1:192575806 C>T

NM_002922.4

p.A5V

c.14C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a172 overlapping SVs

1 paper

chr1:192575808 A>G

NM_002922.4

p.I6V

c.16A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a172 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."