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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RGS13

Variant:p.P20S

RGS13

21 papers

RefSeq Summary

The protein encoded by this gene is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which con...

Pfam Domains

RGSaa 34–149UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

regulator of G protein signaling 13

HGNC Previous Names

regulator of G-protein signalling 13; regulator of G-protein signaling 13

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:192644392 C>T

NM_002927.5

p.P20S

c.58C>T

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=21, hom=0)173 overlapping SVs

Surrounding Variants

1 paper

chr1:192644393 C>A

NM_002927.5

p.P20H

c.59C>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a173 overlapping SVs

1 paper

chr1:192644390 C>T

NM_002927.5

p.P19L

c.56C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a173 overlapping SVs

1 paper

chr1:192644387 G>C

NM_002927.5

p.R18T

c.53G>C

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)173 overlapping SVs

1 paper

chr1:192644387 G>T

NM_002927.5

p.R18M

c.53G>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a173 overlapping SVs

1 paper

chr1:192644383 A>C

NM_002927.5

p.K17Q

c.49A>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a173 overlapping SVs

1 paper

chr1:192644381 C>A

NM_002927.5

p.S16Y

c.47C>A

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=2, hom=0)173 overlapping SVs

1 paper

chr1:192644377 G>A

NM_002927.5

p.E15K

c.43G>A

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)173 overlapping SVs

1 paper

chr1:192644374 G>T

NM_002927.5

p.D14Y

c.40G>T

exact variant not in gnomAD173 overlapping SVs

1 paper

chr1:192644369 G>A

NM_002927.5

p.C12Y

c.35G>A

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=2, hom=0)173 overlapping SVs

1 paper

chr1:192644351 G>A

NM_002927.5

p.C6Y

c.17G>A

Exome: 0.0% (AC=93, hom=0)Genome: 0.0% (AC=4, hom=0)173 overlapping SVs

1 paper

chr1:192644345 G>A

NM_002927.5

p.R4Q

c.11G>A

Exome: 0.4% (AC=5982, hom=245)Genome: 0.8% (AC=1181, hom=45)173 overlapping SVs

1 paper

chr1:192644345 G>T

NM_002927.5

p.R4L

c.11G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a173 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."