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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STX8

Variant:p.S8Y

STX8

40 papers

RefSeq Summary

The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identi...

Pfam Domains

SNAREaa 181–233UCSCSNARE domain

Gene Aliases

HGNC Name

syntaxin 8

HGNC Alias Symbol

CARB

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:9568465 G>T

NM_004853.3

p.S8Y

c.23C>A

exact variant not in gnomAD7 overlapping SVs

Surrounding Variants

1 paper

chr17:9568393 C>T

NM_004853.3

p.R32K

c.95G>A

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr17:9568388 C>G

NM_004853.3

p.G34R

c.100G>C

Exome: 0.0% (AC=68, hom=1)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

3 papers

chr17:9575795 G>A

NM_004853.3

p.P5L

c.14C>T

Exome: 0.6% (AC=7755, hom=33)Genome: 0.4% (AC=600, hom=2)10 overlapping SVs

1 paper

chr17:9575796 G>T

NM_004853.3

p.P5T

c.13C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr17:9575797 G>C

NM_004853.3

p.D4E

c.12C>G

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr17:9575797 G>T

NM_004853.3

p.D4E

c.12C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 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."