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.Q75L

c.224A>T

Surrounding Variants

1 paper

NM_003164.5

p.K69K

c.207G>A

3 papers

NM_003164.5

p.M55V

c.163A>G

1 paper

NM_003164.5

p.P51L

c.152C>T

1 paper

NM_003164.5

p.V45G

c.134T>G

1 paper

NM_003164.5

p.P44fs

c.130_131fs

1 paper

NM_003164.5

p.D37H

c.109G>C

1 paper

NM_003164.5

p.D13E

c.39T>G

1 paper

NM_003164.5

p.D13E

c.39T>A

1 paper

NM_003164.5

p.M1insFs

c.1dupA

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.S92R

c.274A>C