Varaico: Literature-Extracted Genetic Variants

Gene:STX8
Variant:p.T132delFs

STX8

40 papers

RefSeq Summary

The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identi...

Pfam Domains

SNAREaa 181–233UCSCSNARE domain

Gene Aliases

HGNC Name

syntaxin 8

HGNC Alias Symbol

CARB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004853.3
p.T132delFs
c.396delG
Surrounding Variants
1 paper
NM_004853.3
p.T132fs
c.394_395fs
1 paper
NM_004853.3
p.E131Q
c.391G>C
3 papers
NM_004853.3
p.R141Q
c.422G>A
1 paper
NM_004853.3
p.E115D
c.345G>T
1 paper
NM_004853.3
p.E115D
c.345G>C
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