Varaico: Literature-Extracted Genetic Variants

EXOC7

50 papers

RefSeq Summary

The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to...

Pfam Domains

Exo70_Naa 80–153UCSCExocyst complex component Exo70 N-terminal

Exo70_Naa 80–160UCSCExocyst complex component Exo70 N-terminal

Exo70_Caa 361–729UCSCExo70 exocyst complex subunit C-terminal

Gene Aliases

HGNC Name

exocyst complex component 7

HGNC Alias Symbols

EXO70; KIAA1067; YJL085W; Exo70p; BLOM4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 82 variants

3 papers

NM_001013839.4

p.G270Splc

c.809-2A>G

2 papers

NM_001013839.4

p.S48del1

c.142_143delGGA

2 papers

NM_001013839.4

p.D345N

c.1033G>A

2 papers

NM_001013839.4

p.E488A

c.1463A>C

1 paper

NM_001013839.4

p.L25fs

c.73_74fs

1 paper

NM_001013839.4

p.L25delFs

c.73_74delAG

1 paper

NM_001013839.4

p.S31I

c.92G>T

1 paper

NM_001013839.4

p.E33G

c.98A>G

1 paper

NM_001013839.4

p.E33D

c.99G>T

1 paper

NM_001013839.4

p.M42_V43Splc

c.127-4G>A

1 paper

NM_001013839.4

p.E57insFs

c.171dupG

1 paper

NM_001013839.4

p.T67M

c.200C>T