Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNGT1

GNGT1

18 papers

RefSeq Summary

This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a ...

Pfam Domains

G-gammaaa 9–74UCSCGGL domain

Gene Aliases

HGNC Name

G protein subunit gamma transducin 1

HGNC Previous Name

guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr7:93910841 G>A

NM_021955.5

p.E50K

c.148G>A

G-gamma

Exome: 4.6% (AC=66156, hom=1684)Genome: 3.8% (AC=5802, hom=143)94 overlapping SVs

2 papers

chr7:93910841 G>C

NM_021955.5

p.E50Q

c.148G>C

G-gamma

Exome: 1.8% (AC=26080, hom=416)Genome: 3.9% (AC=5956, hom=207)94 overlapping SVs

1 paper

chr7:93906802 T>C

NM_021955.5

p.V19A

c.56T>C

G-gamma

exact variant not in gnomAD91 overlapping SVs

1 paper

chr7:93906828 C>A

NM_021955.5

p.L28M

c.82C>A

G-gamma

Exome: 0.0% (AC=106, hom=0)Genome: 0.0% (AC=10, hom=0)91 overlapping SVs

1 paper

chr7:93906835 G>T

NM_021955.5

p.R30I

c.89G>T

G-gamma

Exome: 0.0% (AC=1, hom=0)Genome: n/a91 overlapping SVs

1 paper

chr7:93910821 A>C

NM_021955.5

p.Y43S

c.128A>C

G-gamma

exact variant not in gnomAD94 overlapping SVs

1 paper

chr7:93910823 G>A

NM_021955.5

p.V44I

c.130G>A

G-gamma

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=12, hom=0)94 overlapping SVs

1 paper

chr7:93910865 C>A

NM_021955.5

p.P58T

c.172C>A

G-gamma

exact variant not in gnomAD94 overlapping SVs

1 paper

chr7:93910881 C>A

NM_021955.5

p.P63H

c.188C>A

G-gamma

exact variant not in gnomAD94 overlapping SVs

1 paper

chr7:93910889 G>C

NM_021955.5

p.E66Q

c.196G>C

G-gamma

exact variant not in gnomAD94 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."