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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNG13

Variant:p.N56H

GNG13

13 papers

RefSeq Summary

Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors....

Pfam Domains

G-gammaaa 3–67UCSCGGL domain

Gene Aliases

HGNC Name

G protein subunit gamma 13

HGNC Alias Symbols

h2-35; G(gamma)13

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:798757 T>G

NM_016541.3

p.N56H

c.166A>C

G-gamma

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

Surrounding Variants

2 papers

chr16:798748 C>T

NM_016541.3

p.V59M

c.175G>A

G-gamma

Exome: 0.0% (AC=41, hom=1)Genome: 0.0% (AC=10, hom=0)10 overlapping SVs

1 paper

chr16:798784 A>T

NM_016541.3

p.F47I

c.139T>A

G-gamma

exact variant not in gnomAD10 overlapping SVs

1 paper

chr16:798808 C>T

NM_016541.3

p.E39K

c.115G>A

G-gamma

Exome: 0.0% (AC=65, hom=0)Genome: 0.0% (AC=6, hom=0)10 overlapping SVs

1 paper

chr16:798912 G>T

NM_016541.3

p.E33Splc

c.98+68C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr16:799007 C>T

NM_016541.3

p.R24Q

c.71G>A

G-gamma

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=5, hom=0)11 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."