Varaico: Literature-Extracted Genetic Variants

Gene:EXOC2
Variant:p.V459I

EXOC2

91 papers

RefSeq Summary

The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membr...

Pfam Domains

TIGaa 8–92UCSCIPT/TIG domain
Sec5aa 132–914UCSCExocyst complex component Sec5

Gene Aliases

HGNC Name

exocyst complex component 2

HGNC Previous Symbol

SEC5L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018303.6
p.V459I
c.1375G>A
Surrounding Variants
2 papers
NM_018303.6
p.L458L
c.1374C>T
2 papers
NM_018303.6
p.K457*
c.1369A>T
1 paper
NM_018303.6
p.R448M
c.1343G>T
1 paper
NM_018303.6
p.S472F
c.1415C>T
1 paper
NM_018303.6
p.E481_T482Splc
c.1443+40C>T
1 paper
NM_018303.6
p.T440Splc
c.1319-70G>A
1 paper
NM_018303.6
p.D439N
c.1315G>A
2 papers
NM_018303.6
p.R437*
c.1309C>T
1 paper
NM_018303.6
p.R437R
c.1309C>A
1 paper
NM_018303.6
p.R414S
c.1240C>A
2 papers
NM_018303.6
p.G487C
c.1459G>T
2 papers
NM_018303.6
p.S486_G487delins
c.1458_1459delinsCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."