Varaico: Literature-Extracted Genetic Variants

Gene:STXBP6
Variant:p.R137G

STXBP6

26 papers

Pfam Domains

Sec3-PIP2_bindaa 41–132UCSCExocyst complex component SEC3 N-terminal PIP2 binding PH
Synaptobrevinaa 153–210UCSCSynaptobrevin

Gene Aliases

HGNC Name

syntaxin binding protein 6

HGNC Alias Symbols

amisyn; HSPC156

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394410.1
p.R137G
c.409A>G
Surrounding Variants
1 paper
NM_001394410.1
p.T129T
c.387C>T
1 paper
NM_001394410.1
p.L126F
c.376C>T
1 paper
NM_001394410.1
p.I148T
c.443T>C
1 paper
NM_001394410.1
p.A116T
c.346G>A
1 paper
NM_001394410.1
p.A113G
c.338C>G
2 papers
NM_001394410.1
p.E105_F108delFs
c.313_323del11
1 paper
NM_001394410.1
p.A107fs
c.319_320fs
1 paper
NM_001394410.1
p.A107delFs
c.320delG
2 papers
NM_001394410.1
p.E105*
c.313G>T
1 paper
NM_001394410.1
p.L102W
c.305T>G
1 paper
NM_001394410.1
p.G95_D96Splc
c.285+72G>A
1 paper
NM_001394410.1
p.D92N
c.274G>A
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