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

1–12 of 43 variants

3 papers

NM_006544.4

p.M649V

c.1945A>G

2 papers

NM_006544.4

p.K522insFs

c.1566dupA

2 papers

NM_006544.4

p.R695C

c.2083C>T

1 paper

NM_006544.4

p.E9_E10Splc

c.27+1G>T

1 paper

NM_006544.4

p.E16K

c.46G>A

1 paper

NM_006544.4

p.L21I

c.61C>A

1 paper

NM_006544.4

p.E44Q

c.130G>C

1 paper

NM_006544.4

p.Q97*

c.289C>T

1 paper

NM_006544.4

p.Q125Q

c.375A>G

1 paper

NM_006544.4

p.E129Q

c.385G>C

1 paper

NM_006544.4

p.Y136*

c.408C>A

1 paper

NM_006544.4

p.D176D

c.528T>C