Varaico: Literature-Extracted Genetic Variants

Gene:STX1B
Variant:p.Y234*

STX1B

93 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to vario...

Pfam Domains

Syntaxinaa 26–180UCSCSyntaxin
SNAREaa 227–279UCSCSNARE domain

Gene Aliases

HGNC Name

syntaxin 1B

HGNC Previous Symbols

STX1B1; STX1B2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052874.5
p.Y234*
c.702C>A
Surrounding Variants
1 paper
NM_052874.5
p.Y234*
c.702C>G
1 paper
NM_052874.5
p.N235K
c.705C>G
1 paper
NM_052874.5
p.N235K
c.705C>A
1 paper
NM_052874.5
p.I229_D230delFs
c.686_689del4
2 papers
NM_052874.5
p.S239P
c.715T>C
1 paper
NM_052874.5
p.S239F
c.716C>T
1 paper
NM_052874.5
p.V240G
c.719T>G
1 paper
NM_052874.5
p.G226E
c.677G>A
12 papers
NM_052874.5
p.G226R
c.676G>C
11 papers
NM_052874.5
p.G226R
c.676G>A
5 papers
NM_052874.5
p.R245*
c.733C>T
3 papers
NM_052874.5
p.A246P
c.736G>C
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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."