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.S364P

c.1090T>C

Surrounding Variants

1 paper

NM_001145297.4

p.D404_E409del0

c.1212_1226del15

1 paper

NM_001013839.4

p.D374A

c.1121A>C

1 paper

NM_001013839.4

p.L352L

c.1054C>T

1 paper

NM_001013839.4

p.D350A

c.1049A>C

1 paper

NM_001013839.4

p.I384V

c.1150A>G

2 papers

NM_001013839.4

p.D345N

c.1033G>A

1 paper

NM_001013839.4

p.A404P

c.1210G>C

1 paper

NM_001013839.4

p.L413insFs

c.1238_1239insA

1 paper

NM_001013839.4

p.F320V

c.958T>G

1 paper

NM_001013839.4

p.A424_F428delFs

c.1272_1282del11

1 paper

NM_001013839.4

p.A312V

c.935C>T

1 paper

NM_001013839.4

p.D430E

c.1290C>A