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.P47R

c.140C>G

Surrounding Variants

4 papers

NM_001024924.2

p.D62H

c.184G>C

1 paper

NM_001024924.2

p.V78I

c.232G>A

1 paper

NM_001024924.2

p.K85_E86Splc

c.255+1G>A

1 paper

NM_001024924.2

p.G30E

c.89G>A

1 paper

NM_001024924.2

p.V26V

c.78C>A

1 paper

NM_001024924.2

p.R10T

c.29G>C

1 paper

NM_001024924.2

p.A7V

c.20C>T

1 paper

NM_001024924.2

p.A102G

c.305C>G

1 paper

NM_001024924.2

p.W116_L118del0

c.346_354del9

4 papers

NM_001024924.2

p.R124W

c.370C>T

1 paper

NM_001024924.2

p.N131S

c.392A>G

1 paper

NM_001024924.2

p.Q147R

c.440A>G