Varaico: Literature-Extracted Genetic Variants

STX5

52 papers

RefSeq Summary

This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitti...

Pfam Domains

Syntaxin-5_Naa 52–74UCSCSyntaxin-5 N-terminal, Sly1p-binding domain

SNAREaa 299–351UCSCSNARE domain

Gene Aliases

HGNC Name

syntaxin 5

HGNC Previous Symbol

STX5A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003164.5

p.S92R

c.274A>C

Surrounding Variants

1 paper

NM_003164.5

p.T95I

c.284C>T

1 paper

NM_003164.5

p.L85F

c.255G>T

1 paper

NM_003164.5

p.L85F

c.255G>C

1 paper

NM_003164.5

p.K99Splc

c.296+1G>A

1 paper

NM_003164.5

p.R100C

c.298C>T

1 paper

NM_003164.5

p.L118Splc

c.353-4G>T

1 paper

NM_003164.5

p.S123Y

c.368C>A

1 paper

NM_003164.5

p.K128R

c.383A>G

1 paper

NM_003164.5

p.I138V

c.412A>G

1 paper

NM_003164.5

p.K148R

c.443A>G

1 paper

NM_003164.5

p.D155N

c.463G>A

1 paper

NM_003164.5

p.G165D

c.494G>A