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.A642V

c.1925C>T

Surrounding Variants

1 paper

NM_006544.4

p.L569Fs

c.1706delinsATFs

3 papers

NM_006544.4

p.M649V

c.1945A>G

1 paper

NM_006544.4

p.L660V

c.1978C>G

1 paper

NM_006544.4

p.V692I

c.2074G>A

1 paper

NM_006544.4

p.L694I

c.2080C>A

2 papers

NM_006544.4

p.R695C

c.2083C>T

2 papers

NM_006544.4

p.K522insFs

c.1566dupA

1 paper

NM_006544.4

p.K520K

c.1560G>A

1 paper

NM_006544.4

p.H494Y

c.1480C>T

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