Varaico: Literature-Extracted Genetic Variants

Gene:EXOC7
Variant:p.E488A

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
2 papers
NM_001013839.4
p.E488A
c.1463A>C
Surrounding Variants
1 paper
NM_001013839.4
p.L502P
c.1505T>C
1 paper
NM_001013839.4
p.E517K
c.1549G>A
1 paper
NM_001013839.4
p.A520S
c.1558G>T
1 paper
NM_001013839.4
p.A523T
c.1567G>A
1 paper
NM_001013839.4
p.T549P
c.1645A>C
1 paper
NM_001013839.4
p.R558W
c.1672C>T
1 paper
NM_001013839.4
p.E559K
c.1675G>A
1 paper
NM_001013839.4
p.E562K
c.1684G>A
1 paper
NM_001013839.4
p.V575E
c.1724T>A
1 paper
NM_001013839.4
p.A474T
c.1420G>A
1 paper
NM_001013839.4
p.Q588L
c.1763A>T
1 paper
NM_001013839.4
p.I456T
c.1367T>C
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