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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOC4

Variant:p.Q578R

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

4 papers

chr7:133817543 A>G

NM_021807.4

p.Q578R

c.1733A>G

Exome: 0.0% (AC=10, hom=0)Genome: n/a65 overlapping SVs

Surrounding Variants

1 paper

chr7:133817459 G>C

NM_021807.4

p.G550A

c.1649G>C

exact variant not in gnomAD65 overlapping SVs

1 paper

chr7:133817458 G>A

NM_021807.4

p.G550R

c.1648G>A

Exome: 0.5% (AC=6895, hom=25)Genome: 0.4% (AC=547, hom=2)65 overlapping SVs

1 paper

chr7:133817458 G>C

NM_021807.4

p.G550R

c.1648G>C

exact variant not in gnomAD65 overlapping SVs

1 paper

chr7:133817397 C>T

NM_021807.4

p.T529T

c.1587C>T

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, 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."