Varaico: Literature-Extracted Genetic Variants

Gene:STX8

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
1–12 of 22 variants
3 papers
NM_004853.3
p.P5L
c.14C>T
3 papers
NM_004853.3
p.R141Q
c.422G>A
1 paper
NM_004853.3
p.D4E
c.12C>G
1 paper
NM_004853.3
p.D4E
c.12C>A
1 paper
NM_004853.3
p.P5T
c.13C>A
1 paper
NM_004853.3
p.S8Y
c.23C>A
1 paper
NM_004853.3
p.R32K
c.95G>A
1 paper
NM_004853.3
p.G34R
c.100G>C
1 paper
NM_004853.3
p.R78Q
c.233G>A
1 paper
NM_004853.3
p.R79T
c.236G>C
1 paper
NM_004853.3
p.L82R
c.245T>G
1 paper
NM_004853.3
p.D85A
c.254A>C
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