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

Selected Variant

1 paper

NM_001013839.4

p.E110*

c.328G>T

Surrounding Variants

1 paper

NM_001013839.4

p.E110Q

c.328G>C

1 paper

NM_001013839.4

p.S130N

c.389G>A

1 paper

NM_001013839.4

p.G104Splc

c.311+1G>A

1 paper

NM_001013839.4

p.E98G

c.293A>G

1 paper

NM_001013839.4

p.S89N

c.266G>A

1 paper

NM_001013839.4

p.Q74H

c.222G>T

1 paper

NM_001013839.4

p.Q74H

c.222G>C

1 paper

NM_001013839.4

p.Q74*

c.220C>T

1 paper

NM_001013839.4

p.R72W

c.214C>T

1 paper

NM_001013839.4

p.T67M

c.200C>T

1 paper

NM_001013839.4

p.E57insFs

c.171dupG

2 papers

NM_001013839.4

p.S48del1

c.142_143delGGA