Varaico: Literature-Extracted Genetic Variants

Gene:EXOC2
Variant:p.L209V

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
1 paper
NM_018303.6
p.L209V
c.625C>G
Surrounding Variants
1 paper
NM_018303.6
p.S220L
c.659C>T
1 paper
NM_018303.6
p.K197*
c.589A>T
1 paper
NM_018303.6
p.A194D
c.581C>A
1 paper
NM_018303.6
p.L190L
c.568C>T
1 paper
NM_018303.6
p.A186V
c.557C>T
1 paper
NM_018303.6
p.Q182*
c.544C>T
2 papers
NM_018303.6
p.E163Q
c.487G>C
1 paper
NM_018303.6
p.G155E
c.464G>A
1 paper
NM_018303.6
p.F153F
c.459C>T
1 paper
NM_018303.6
p.K143delFs
c.429delT
1 paper
NM_018303.6
p.K225Q
c.673A>C
1 paper
NM_018303.6
p.A228V
c.683C>T
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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."