Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.N611D

EXPH5

146 papers

RefSeq Summary

The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-relate...

Gene Aliases

HGNC Name

exophilin 5

HGNC Alias Symbol

SLAC2-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015065.3
p.N611D
c.1831A>G
Surrounding Variants
1 paper
NM_015065.3
p.I610T
c.1829T>C
1 paper
NM_015065.3
p.Q601Q
c.1803G>A
1 paper
NM_015065.3
p.S599R
c.1797T>A
2 papers
NM_015065.3
p.S594C
c.1781C>G
1 paper
NM_015065.3
p.R639K
c.1916G>A
1 paper
NM_015065.3
p.G578V
c.1733G>T
1 paper
NM_015065.3
p.G578S
c.1732G>A
6 papers
NM_015065.3
p.P649insFs
c.1947dupC
1 paper
NM_015065.3
p.Q654_K655insG
c.1960_1964ins3
1 paper
NM_015065.3
p.Q654R
c.1961A>G
1 paper
NM_015065.3
p.M666I
c.1998G>T
1 paper
NM_015065.3
p.M666I
c.1998G>C
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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."