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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNG5

GNG5

8 papers

RefSeq Summary

G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G p...

Pfam Domains

G-gammaaa 4–68UCSCGGL domain

Gene Aliases

HGNC Name

G protein subunit gamma 5

HGNC Previous Name

guanine nucleotide binding protein (G protein), gamma 5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr1:84506044 C>T

NM_005274.3

p.Q16Q

c.48G>A

G-gamma

Exome: 0.1% (AC=848, hom=1)Genome: 0.0% (AC=56, hom=0)238 overlapping SVs

1 paper

chr1:84506034 C>T

NM_005274.3

p.E20K

c.58G>A

G-gamma

exact variant not in gnomAD238 overlapping SVs

1 paper

chr1:84506031 C>T

NM_005274.3

p.A21T

c.61G>A

G-gamma

Exome: 0.0% (AC=1, hom=0)Genome: n/a238 overlapping SVs

1 paper

chr1:84501943 G>A

NM_005274.3

p.Q37*

c.109C>T

G-gamma

exact variant not in gnomAD238 overlapping SVs

1 paper

chr1:84501934 G>A

NM_005274.3

p.L40L

c.118C>T

G-gamma

exact variant not in gnomAD238 overlapping SVs

1 paper

chr1:84501912 G>C

NM_005274.3

p.P47R

c.140C>G

G-gamma

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)238 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."