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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STX7

Variant:p.A250V

STX7

36 papers

RefSeq Summary

The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along w...

Pfam Domains

Syntaxin_2aa 14–158UCSCSyntaxin-like protein

SNAREaa 201–253UCSCSNARE domain

Gene Aliases

HGNC Name

syntaxin 7

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:132460795 G>A

NM_003569.3

p.A250V

c.749C>T

SNARE

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=12, hom=0)72 overlapping SVs

Surrounding Variants

1 paper

chr6:132460770 T>G

NM_003569.3

p.G258G

c.774A>C

Exome: 0.2% (AC=3264, hom=6)Genome: 0.2% (AC=264, hom=1)72 overlapping SVs

1 paper

chr6:132460850 G>C

NM_003569.3

p.R232G

c.694C>G

SNARE

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:132468441 T>C

NM_003569.3

p.D191G

c.572A>G

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=4, hom=0)72 overlapping SVs

1 paper

chr6:132468463 C>A

NM_003569.3

p.D184Y

c.550G>T

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:132469978 C>T

NM_003569.3

p.E170E

c.510G>A

Exome: 0.1% (AC=1854, hom=30)Genome: 0.2% (AC=329, hom=3)72 overlapping SVs

1 paper

chr6:132470612 C>A

NM_003569.3

p.E134D

c.402G>T

Syntaxin_2

Exome: 0.0% (AC=0, hom=0)Genome: n/a72 overlapping SVs

1 paper

chr6:132470612 C>G

NM_003569.3

p.E134D

c.402G>C

Syntaxin_2

exact variant not in gnomAD72 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."