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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS52

Variant:p.R662Q

VPS52

47 papers

RefSeq Summary

This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is i...

Pfam Domains

Vps52_CCaa 101–273UCSCVps52/Sac2 family, coiled-coil

Vps52_Caa 290–601UCSCVps52, C-terminal

Gene Aliases

HGNC Name

VPS52 subunit of GARP complex

HGNC Previous Symbol

SACM2L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr6:33251558 C>T

NM_022553.6

p.R662Q

c.1985G>A

Exome: 0.3% (AC=4111, hom=14)Genome: 0.3% (AC=385, hom=4)58 overlapping SVs

Surrounding Variants

1 paper

chr6:33251573 C>T

NM_022553.6

p.S657N

c.1970G>A

Exome: 0.0% (AC=79, hom=0)Genome: 0.0% (AC=5, hom=0)58 overlapping SVs

1 paper

chr6:33251581 T>A

NM_022553.6

p.E654D

c.1962A>T

exact variant not in gnomAD58 overlapping SVs

1 paper

chr6:33251581 T>G

NM_022553.6

p.E654D

c.1962A>C

exact variant not in gnomAD58 overlapping SVs

1 paper

chr6:33250902 G>A

NM_022553.6

p.A704V

c.2111C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a58 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."