Varaico: Literature-Extracted Genetic Variants

EXOC5

42 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

Sec10_Naa 39–153UCSCExocyst complex component Sec10, N-terminal

Sec10_HBaa 158–707UCSCExocyst complex component Sec10-like, alpha-helical bundle

Gene Aliases

HGNC Name

exocyst complex component 5

HGNC Previous Symbol

SEC10L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006544.4

p.V181G

c.542T>G

Surrounding Variants

1 paper

NM_006544.4

p.A203V

c.608C>T

1 paper

NM_006544.4

p.D176D

c.528T>C

1 paper

NM_006544.4

p.C236C

c.708C>T

1 paper

NM_006544.4

p.E238D

c.714G>T

1 paper

NM_006544.4

p.E238D

c.714G>C

1 paper

NM_006544.4

p.G239D

c.716G>A

1 paper

NM_006544.4

p.N244T

c.731A>C

1 paper

NM_006544.4

p.Q331*

c.991C>T

1 paper

NM_006544.4

p.Q331H

c.993G>T

1 paper

NM_006544.4

p.Q331H

c.993G>C

1 paper

NM_006544.4

p.Y136*

c.408C>A

1 paper

NM_006544.4

p.E129Q

c.385G>C