Varaico: Literature-Extracted Genetic Variants

Gene:EXOC4
Variant:p.S220F

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
Selected Variant
2 papers
NM_021807.4
p.S220F
c.659C>T
Surrounding Variants
1 paper
NM_021807.4
p.L221_V222delFs
c.663_666del4
1 paper
NM_021807.4
p.A225_L229del0
c.673_687del15
1 paper
NM_021807.4
p.V227F
c.679G>T
1 paper
NM_021807.4
p.G251R
c.751G>A
1 paper
NM_021807.4
p.G251R
c.751G>C
1 paper
NM_021807.4
p.G251A
c.752G>C
1 paper
NM_021807.4
p.S253delFs
c.757delT
1 paper
NM_021807.4
p.S253*
c.758C>G
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