Varaico: Literature-Extracted Genetic Variants

Gene:EXOC4

EXOC4

71 papers

RefSeq Summary

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though be...

Pfam Domains

Sec8_Naa 27–144UCSCExocyst complex component Sec8 N-terminal
Sec8_Caa 270–504UCSCExocyst complex component Sec8 C-terminal

Gene Aliases

HGNC Name

exocyst complex component 4

HGNC Previous Symbol

SEC8L1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
4 papers
NM_021807.4
p.Q578R
c.1733A>G
2 papers
NM_021807.4
p.S220F
c.659C>T
2 papers
NM_021807.4
p.R423Q
c.1268G>A
2 papers
NM_021807.4
p.L852F
c.2554C>T
1 paper
NM_021807.4
p.A5G
c.14C>G
1 paper
NM_021807.4
p.S21*
c.62C>A
1 paper
NM_021807.4
p.S21L
c.62C>T
1 paper
NM_021807.4
p.G22V
c.65G>T
1 paper
NM_021807.4
p.R46R
c.138C>A
1 paper
NM_021807.4
p.L47R
c.140T>G
1 paper
NM_021807.4
p.R74C
c.220C>T
1 paper
NM_021807.4
p.N88S
c.263A>G
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