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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOC4

Variant:p.K443N

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

chr7:133475474 G>T

NM_021807.4

p.K443N

c.1329G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a68 overlapping SVs

Surrounding Variants

1 paper

chr7:133475474 G>C

NM_021807.4

p.K443N

c.1329G>C

exact variant not in gnomAD68 overlapping SVs

2 papers

chr7:133475413 G>A

NM_021807.4

p.R423Q

c.1268G>A

Sec8_C

Exome: 0.0% (AC=13, hom=1)Genome: 0.0% (AC=1, hom=0)68 overlapping SVs

1 paper

chr7:133475379 C>G

NM_021807.4

p.P412A

c.1234C>G

Sec8_C

exact variant not in gnomAD68 overlapping SVs

1 paper

chr7:133480053 C>T

NM_021807.4

p.F444F

c.1332C>T

Sec8_C

Exome: 0.0% (AC=6, hom=0)Genome: n/a67 overlapping SVs

1 paper

chr7:133480058 C>A

NM_021807.4

p.S446*

c.1337C>A

Sec8_C

exact variant not in gnomAD67 overlapping SVs

1 paper

chr7:133480058 C>T

NM_021807.4

p.S446L

c.1337C>T

Sec8_C

Exome: 0.0% (AC=77, hom=0)Genome: 0.0% (AC=9, hom=0)67 overlapping SVs

1 paper

chr7:133480121 G>A

NM_021807.4

p.R467Q

c.1400G>A

Sec8_C

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=2, hom=0)67 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."