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.N827K

c.2481C>A

Surrounding Variants

1 paper

NM_001024924.2

p.N827K

c.2481C>G

1 paper

NM_001024924.2

p.G871*

c.2611G>T

1 paper

NM_001024924.2

p.C887insFs

c.2660_2661insC

1 paper

NM_001024924.2

p.P774S

c.2320C>T

1 paper

NM_001024924.2

p.S765delFs

c.2295delT

1 paper

NM_001024924.2

p.S765fs

c.2293_2294fs

1 paper

NM_001024924.2

p.R742Q

c.2225G>A

1 paper

NM_001024924.2

p.R725M

c.2174G>T

1 paper

NM_001024924.2

p.P673S

c.2017C>T

2 papers

NM_001024924.2

p.G670E

c.2009G>A

1 paper

NM_001024924.2

p.S652N

c.1955G>A

1 paper

NM_001024924.2

p.M616I

c.1848G>A