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.K241R

c.722A>G

Surrounding Variants

1 paper

NM_003164.5

p.D242H

c.724G>C

1 paper

NM_003164.5

p.S237T

c.709T>A

1 paper

NM_003164.5

p.G234insFs

c.701dupG

1 paper

NM_003164.5

p.G227D

c.680G>A

1 paper

NM_003164.5

p.Q262R

c.785A>G

1 paper

NM_003164.5

p.E298K

c.892G>A

1 paper

NM_003164.5

p.P220L

c.659C>T

1 paper

NM_003164.5

p.M186I

c.558G>T

1 paper

NM_003164.5

p.A184T

c.550G>A

1 paper

NM_003164.5

p.H171Y

c.511C>T

2 papers

NM_003164.5

p.H167D

c.499C>G

1 paper

NM_003164.5

p.G165D

c.494G>A