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.M616I

c.1848G>A

Surrounding Variants

1 paper

NM_001024924.2

p.M616I

c.1848G>C

1 paper

NM_001024924.2

p.M616I

c.1848G>T

1 paper

NM_001024924.2

p.I604fs

c.1810_1811fs

1 paper

NM_001024924.2

p.I604insFs

c.1811dupT

3 papers

NM_001024924.2

p.R588C

c.1762C>T

1 paper

NM_001024924.2

p.F537L

c.1611C>G

1 paper

NM_001024924.2

p.S652N

c.1955G>A

2 papers

NM_001024924.2

p.G670E

c.2009G>A

1 paper

NM_001024924.2

p.P673S

c.2017C>T

1 paper

NM_001024924.2

p.K513N

c.1539G>C

1 paper

NM_001024924.2

p.K513N

c.1539G>T

1 paper

NM_001024924.2

p.R508K

c.1523G>A