Varaico: Literature-Extracted Genetic Variants

Gene:EXOC2
Variant:p.R5*

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.R5*
c.13C>T
Surrounding Variants
1 paper
NM_018303.6
p.R3*
c.7C>T
1 paper
NM_018303.6
p.M1K
c.2T>A
1 paper
NM_018303.6
p.L9delFs
c.25delG
1 paper
NM_018303.6
p.T11A
c.31A>G
1 paper
NM_018303.6
p.G12R
c.34G>C
1 paper
NM_018303.6
p.G12V
c.35G>T
2 papers
NM_018303.6
p.I13_S14delins
c.38_40delinsGGA
1 paper
NM_018303.6
p.P15T
c.43C>A
1 paper
NM_018303.6
p.W21R
c.61T>C
1 paper
NM_018303.6
p.W21R
c.61T>A
1 paper
NM_018303.6
p.V24I
c.70G>A
1 paper
NM_018303.6
p.G28V
c.83G>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."