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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RGS18

RGS18

28 papers

RefSeq Summary

This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activi...

Pfam Domains

RGSaa 86–201UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

regulator of G protein signaling 18

HGNC Previous Names

regulator of G-protein signalling 18; regulator of G-protein signaling 18

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 186 variants

2 papers

chr1:192159285 G>A

NM_130782.3

p.R62H

c.185G>A

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=4, hom=0)175 overlapping SVs

2 papers

chr1:192181382 G>A

NM_130782.3

p.S125N

c.374G>A

RGS

Exome: 0.0% (AC=4, hom=0)Genome: n/a177 overlapping SVs

2 papers

chr1:192181382 G>T

NM_130782.3

p.S125I

c.374G>T

RGS

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=5, hom=0)177 overlapping SVs

2 papers

chr1:192181393 C>G

NM_130782.3

p.Q129E

c.385C>G

RGS

Exome: 0.0% (AC=126, hom=0)Genome: 0.0% (AC=24, hom=0)177 overlapping SVs

2 papers

chr1:192184320 A>C

NM_130782.3

p.K158N

c.474A>C

RGS

Exome: 0.0% (AC=5, hom=0)Genome: n/a177 overlapping SVs

2 papers

chr1:192184320 A>T

NM_130782.3

p.K158N

c.474A>T

RGS

exact variant not in gnomAD177 overlapping SVs

2 papers

chr1:192184490 G>A

NM_130782.3

p.R215Q

c.644G>A

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=8, hom=0)177 overlapping SVs

1 paper

chr1:192158639 T>C

NM_130782.3

p.M1T

c.2T>C

exact variant not in gnomAD175 overlapping SVs

1 paper

chr1:192158644 A>C

NM_130782.3

p.T3P

c.7A>C

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=1, hom=0)175 overlapping SVs

1 paper

chr1:192158645 C>A

NM_130782.3

p.T3K

c.8C>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=4, hom=0)175 overlapping SVs

1 paper

chr1:192158651 T>C

NM_130782.3

p.L5S

c.14T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a175 overlapping SVs

1 paper

chr1:192158659 T>C

NM_130782.3

p.F8L

c.22T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a175 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."