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.K234insFs

c.701dupA

Surrounding Variants

1 paper

NM_001024924.2

p.S255R

c.763A>C

1 paper

NM_001024924.2

p.S255R

c.765C>A

1 paper

NM_001024924.2

p.S255R

c.765C>G

1 paper

NM_001024924.2

p.L258L

c.772C>T

1 paper

NM_001024924.2

p.A303T

c.907G>A

1 paper

NM_001024924.2

p.R320*

c.958C>T

1 paper

NM_001024924.2

p.R340Q

c.1019G>A

1 paper

NM_001024924.2

p.R345W

c.1033C>T

1 paper

NM_001024924.2

p.R346_V354del9

c.1036_1061del27

1 paper

NM_001024924.2

p.F355V

c.1063T>G

1 paper

NM_001024924.2

p.Q147R

c.440A>G

1 paper

NM_001024924.2

p.N131S

c.392A>G