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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STX18

Variant:p.S51G

STX18

21 papers

RefSeq Summary

This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other S...

Pfam Domains

Syntaxin-18_Naa 3–96UCSCSNARE-complex protein Syntaxin-18 N-terminus

Gene Aliases

HGNC Name

syntaxin 18

HGNC Alias Symbol

Ufe1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:4541814 T>C

NM_016930.4

p.S51G

c.151A>G

Syntaxin-18_N

Exome: 0.2% (AC=2377, hom=64)Genome: 1.5% (AC=2330, hom=64)24 overlapping SVs

Surrounding Variants

1 paper

chr4:4541793 T>G

NM_016930.4

p.V56_I57Splc

c.168+4A>C

Exome: 0.0% (AC=20, hom=0)Genome: n/a24 overlapping SVs

1 paper

chr4:4541856 C>G

NM_016930.4

p.E37Q

c.109G>C

Syntaxin-18_N

exact variant not in gnomAD24 overlapping SVs

1 paper

chr4:4541936 C>G

NM_016930.4

p.R10P

c.29G>C

Syntaxin-18_N

Exome: 0.0% (AC=6, hom=0)Genome: n/a24 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."