Varaico: Literature-Extracted Genetic Variants

Gene:EXOC8
Variant:p.Y231C

EXOC8

69 papers

RefSeq Summary

This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-...

Pfam Domains

VPS51_Exo84_Naa 17–103UCSCVps51/EXO84/COG1 N-terminal
Exo84_Caa 335–540UCSCExocyst component 84 C-terminal

Gene Aliases

HGNC Name

exocyst complex component 8

HGNC Alias Symbols

SEC84; EXO84; Exo84p

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175876.5
p.Y231C
c.692A>G
Surrounding Variants
1 paper
NM_175876.5
p.D234insFs
c.701dupA
2 papers
NM_175876.5
p.N240S
c.719A>G
1 paper
NM_175876.5
p.L254H
c.761T>A
1 paper
NM_175876.5
p.F206C
c.617T>G
1 paper
NM_175876.5
p.R260C
c.778C>T
1 paper
NM_175876.5
p.Q199*
c.595C>T
1 paper
NM_175876.5
p.E265*
c.793G>T
1 paper
NM_175876.5
p.E265V
c.794A>T
3 papers
NM_175876.5
p.E265G
c.794A>G
1 paper
NM_175876.5
p.A194T
c.580G>A
1 paper
NM_175876.5
p.D193N
c.577G>A
1 paper
NM_175876.5
p.Y192C
c.575A>G
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