Varaico: Literature-Extracted Genetic Variants

Gene:STX2
Variant:p.V21_V22del1

STX2

77 papers

RefSeq Summary

The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The...

Pfam Domains

Syntaxinaa 26–180UCSCSyntaxin
SNAREaa 227–262UCSCSNARE domain
SNAREaa 227–279UCSCSNARE domain
SNAREaa 227–279UCSCSNARE domain

Gene Aliases

HGNC Name

syntaxin 2

HGNC Previous Symbols

STX2B; STX2C; STX2A; EPIM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_194356.4
p.V21_V22del1
c.63_65delACA
Surrounding Variants
1 paper
NM_194356.4
p.V22del1
c.64_65delCAC
1 paper
NM_194356.4
p.N14delFs
c.41_42delAT
1 paper
NM_194356.4
p.D30A
c.89A>C
8 papers
NM_194356.4
p.F32V
c.94T>G
1 paper
NM_194356.4
p.F33C
c.98T>G
1 paper
NM_194356.4
p.H34Y
c.100C>T
7 papers
NM_194356.4
p.S42T
c.125G>C
1 paper
NM_194356.4
p.N41_S42del2
c.121_125del6
1 paper
NM_194356.4
p.K45_I46delFs
c.135_136delTT
1 paper
NM_194356.4
p.T47S
c.140C>G
2 papers
NM_194356.4
p.Q48*
c.142C>T
1 paper
NM_194356.4
p.E52A
c.155A>C
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