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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STX18

Variant:p.R115Q

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

chr4:4459380 C>T

NM_016930.4

p.R115Q

c.344G>A

Syntaxin-18_N

Exome: 0.0% (AC=2, hom=0)Genome: n/a24 overlapping SVs

Surrounding Variants

1 paper

chr4:4459371 C>T

NM_016930.4

p.A118Splc

c.352+1G>A

Syntaxin-18_N

Exome: 0.0% (AC=9, hom=0)Genome: n/a24 overlapping SVs

1 paper

chr4:4457245 A>G

NM_016930.4

p.L148P

c.443T>C

Syntaxin-18_N

exact variant not in gnomAD24 overlapping SVs

1 paper

chr4:4457095 C>T

NM_016930.4

p.L166Splc

c.497+96G>A

Exome: 0.0% (AC=121, hom=0)Genome: 0.0% (AC=13, hom=1)24 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."