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.H494Y

c.1480C>T

Surrounding Variants

1 paper

NM_006544.4

p.Q487*

c.1459C>T

1 paper

NM_006544.4

p.V486L

c.1456G>T

1 paper

NM_006544.4

p.V486L

c.1456G>C

1 paper

NM_006544.4

p.V485F

c.1453G>T

1 paper

NM_006544.4

p.D484V

c.1451A>T

1 paper

NM_006544.4

p.D484Y

c.1450G>T

1 paper

NM_006544.4

p.L483F

c.1449G>T

1 paper

NM_006544.4

p.L483F

c.1449G>C

1 paper

NM_006544.4

p.L483W

c.1448T>G

1 paper

NM_006544.4

p.Y481insFs

c.1442_1443insT

1 paper

NM_006544.4

p.L480V

c.1438C>G

1 paper

NM_006544.4

p.N479I

c.1436A>T