Varaico: Literature-Extracted Genetic Variants

EXOC1

55 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

Sec3-PIP2_bindaa 31–121UCSCExocyst complex component SEC3 N-terminal PIP2 binding PH

Sec3_CCaa 185–317UCSCExocyst complex component Sec3, coiled-coil

Sec3_C-termaa 558–871UCSCExocyst complex component Sec3, C-terminal

Gene Aliases

HGNC Name

exocyst complex component 1

HGNC Previous Symbol

SEC3L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001024924.2

p.K430N

c.1290G>T

Surrounding Variants

1 paper

NM_001024924.2

p.K430N

c.1290G>C

1 paper

NM_001024924.2

p.Y413insFs

c.1238_1239insA

1 paper

NM_001024924.2

p.A444Splc

c.1330+1646C>T

1 paper

NM_001024924.2

p.R448*

c.1342C>T

1 paper

NM_001024924.2

p.R448Q

c.1343G>A

1 paper

NM_001024924.2

p.S397N

c.1190G>A

1 paper

NM_001024924.2

p.E393Q

c.1177G>C

1 paper

NM_001024924.2

p.A389T

c.1165G>A

1 paper

NM_001024924.2

p.H360N

c.1078C>A

1 paper

NM_001024924.2

p.L493M

c.1477T>A

1 paper

NM_001024924.2

p.M498I

c.1494G>T

1 paper

NM_001024924.2

p.R508K

c.1523G>A