Varaico: Literature-Extracted Genetic Variants

Gene:EXOC2
Variant:p.H559H

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.H559H
c.1677T>C
Surrounding Variants
2 papers
NM_018303.6
p.P568S
c.1702C>T
1 paper
NM_018303.6
p.N569S
c.1706A>G
1 paper
NM_018303.6
p.L580S
c.1739T>C
1 paper
NM_018303.6
p.V587I
c.1759G>A
1 paper
NM_018303.6
p.A589T
c.1765G>A
2 papers
NM_018303.6
p.A595V
c.1784C>T
1 paper
NM_018303.6
p.R556Splc
c.1667+30C>A
2 papers
NM_018303.6
p.A549T
c.1645G>A
1 paper
NM_018303.6
p.G545R
c.1633G>A
1 paper
NM_018303.6
p.E542*
c.1624G>T
1 paper
NM_018303.6
p.E542K
c.1624G>A
1 paper
NM_018303.6
p.C541C
c.1623C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."