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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VTA1

Variant:p.E137_N138Splc

VTA1

27 papers

RefSeq Summary

C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 156...

Pfam Domains

Vta1aa 16–158UCSCVta1 like

Vta1_Caa 266–303UCSCVta1 C-terminal domain

Gene Aliases

HGNC Name

vesicle trafficking 1

HGNC Previous Symbol

C6orf55

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:142189422 T>C

NM_016485.5

p.E137_N138Splc

c.412-4T>C

Exome: 0.0% (AC=234, hom=3)Genome: 0.0% (AC=15, hom=0)68 overlapping SVs

Surrounding Variants

1 paper

chr6:142189511 C>G

NM_016485.5

p.P166R

c.497C>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)68 overlapping SVs

1 paper

chr6:142198493 A>G

NM_016485.5

p.Q192R

c.575A>G

exact variant not in gnomAD67 overlapping SVs

1 paper

chr6:142198494 G>A

NM_016485.5

p.Q192Q

c.576G>A

exact variant not in gnomAD67 overlapping SVs

1 paper

chr6:142198499 C>T

NM_016485.5

p.S194L

c.581C>T

Exome: n/aGenome: 0.0% (AC=1, hom=0)67 overlapping SVs

1 paper

chr6:142198531 C>T

NM_016485.5

p.P205S

c.613C>T

exact variant not in gnomAD67 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."