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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOC4

Variant:p.G22V

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:133253166 G>T

NM_021807.4

p.G22V

c.65G>T

exact variant not in gnomAD65 overlapping SVs

Surrounding Variants

1 paper

chr7:133253163 C>A

NM_021807.4

p.S21*

c.62C>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a65 overlapping SVs

1 paper

chr7:133253163 C>T

NM_021807.4

p.S21L

c.62C>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)65 overlapping SVs

1 paper

chr7:133253115 C>G

NM_021807.4

p.A5G

c.14C>G

Exome: 0.0% (AC=156, hom=1)Genome: 0.1% (AC=179, hom=0)65 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."