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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEC61G

SEC61G

11 papers

RefSeq Summary

The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins...

Pfam Domains

SecEaa 12–66UCSCSecE/Sec61-gamma subunits of protein translocation complex

Gene Aliases

HGNC Name

SEC61 translocon subunit gamma

HGNC Alias Symbol

SSS1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr7:54757567 C>T

NM_014302.4

p.V8I

c.22G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr7:54757531 G>A

NM_014302.4

p.R20W

c.58C>T

SecE

Exome: 0.0% (AC=1, hom=0)Genome: n/a83 overlapping SVs

1 paper

chr7:54757518 C>A

NM_014302.4

p.R24I

c.71G>T

SecE

exact variant not in gnomAD83 overlapping SVs

1 paper

chr7:54755803 T>C

NM_014302.4

p.H58R

c.173A>G

SecE

exact variant not in gnomAD83 overlapping SVs

1 paper

chr7:54755781 A>G

NM_014302.4

p.I65I

c.195T>C

SecE

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)83 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."