Varaico: Literature-Extracted Genetic Variants

Gene:STX3
Variant:p.E166A

STX3

84 papers

RefSeq Summary

The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarit...

Pfam Domains

Syntaxinaa 29–181UCSCSyntaxin
SNAREaa 227–279UCSCSNARE domain

Gene Aliases

HGNC Name

syntaxin 3

HGNC Previous Symbol

STX3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004177.5
p.E166A
c.497A>C
Surrounding Variants
2 papers
NM_004177.5
p.N173D
c.517A>G
1 paper
NM_004177.5
p.N173S
c.518A>G
1 paper
NM_004177.5
p.T178I
c.533C>T
1 paper
NM_004177.5
p.H198Y
c.592C>T
1 paper
NM_004177.5
p.K199E
c.595A>G
1 paper
NM_004177.5
p.I201T
c.602T>C
1 paper
NM_004177.5
p.L204M
c.610C>A
2 papers
NM_004177.5
p.Q225_G226Splc
c.675+1G>T
3 papers
NM_004177.5
p.Q152insFs
c.455dupA
1 paper
NM_004177.5
p.E143*
c.427G>T
1 paper
NM_004177.5
p.R142Q
c.425G>A
1 paper
NM_004177.5
p.Q138*
c.412C>T
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