Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STX18

Variant:p.N197T

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

2 papers

chr4:4438417 T>G

NM_016930.4

p.N197T

c.590A>C

Exome: 0.0% (AC=12, hom=0)Genome: n/a25 overlapping SVs

Surrounding Variants

1 paper

chr4:4438456 T>A

NM_016930.4

p.E184V

c.551A>T

Exome: 0.0% (AC=102, hom=4)Genome: 0.0% (AC=5, hom=0)25 overlapping SVs

4 papers

chr4:4438456 T>G

NM_016930.4

p.E184A

c.551A>C

Exome: 4.5% (AC=66370, hom=1752)Genome: 4.9% (AC=7473, hom=207)25 overlapping SVs

1 paper

chr4:4438490 G>A

NM_016930.4

p.P173S

c.517C>T

Syntaxin-18_N

exact variant not in gnomAD25 overlapping SVs

1 paper

chr4:4438496 G>A

NM_016930.4

p.P171S

c.511C>T

Syntaxin-18_N

exact variant not in gnomAD25 overlapping SVs

3 papers

chr4:4434790 A>T

NM_016930.4

p.S228T

c.682T>A

Exome: 4.6% (AC=67500, hom=1851)Genome: 5.8% (AC=8797, hom=307)26 overlapping SVs

1 paper

chr4:4434770 C>CA

NM_016930.4

p.M234insFs

c.701dupT

exact variant not in gnomAD26 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."