Varaico: Literature-Extracted Genetic Variants

Gene:EXOC2
Variant:p.L343V

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.L343V
c.1027T>G
Surrounding Variants
2 papers
NM_018303.6
p.L338_L339delins
c.1014_1015delinsCA
2 papers
NM_018303.6
p.P347P
c.1041A>T
1 paper
NM_018303.6
p.S348L
c.1043C>T
1 paper
NM_018303.6
p.R336G
c.1006A>G
1 paper
NM_018303.6
p.A334T
c.1000G>A
1 paper
NM_018303.6
p.V318M
c.952G>A
1 paper
NM_018303.6
p.F282Y
c.845T>A
1 paper
NM_018303.6
p.K264insFs
c.792dupA
1 paper
NM_018303.6
p.D265fs
c.793_794fs
1 paper
NM_018303.6
p.G367V
c.1100G>T
1 paper
NM_018303.6
p.A376G
c.1127C>G
1 paper
NM_018303.6
p.A376A
c.1128C>A
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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."