Varaico: Literature-Extracted Genetic Variants

Gene:STXBP4
Variant:p.E102D

STXBP4

33 papers

Pfam Domains

PDZaa 21–99UCSCPDZ domain
WWaa 498–527UCSCWW domain

Gene Aliases

HGNC Name

syntaxin binding protein 4

HGNC Alias Symbols

Synip; MGC50337

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178509.6
p.E102D
c.306G>T
Surrounding Variants
1 paper
NM_178509.6
p.E102D
c.306G>C
3 papers
NM_178509.6
p.S99F
c.296C>T
3 papers
NM_178509.6
p.S99A
c.295T>G
1 paper
NM_178509.6
p.C120R
c.358T>C
1 paper
NM_178509.6
p.L139fs
c.415_416fs
1 paper
NM_178509.6
p.L139insFs
c.415_416insT
1 paper
NM_178509.6
p.P143S
c.427C>T
1 paper
NM_178509.6
p.I146V
c.436A>G
1 paper
NM_178509.6
p.S164F
c.491C>T
1 paper
NM_178509.6
p.E166Q
c.496G>C
1 paper
NM_178509.6
p.R96Splc
c.287+7A>G
1 paper
NM_178509.6
p.G92R
c.274G>A
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