Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.R290S

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
2 papers
NM_015065.3
p.R290S
c.870G>C
Surrounding Variants
2 papers
NM_015065.3
p.R290S
c.870G>T
1 paper
NM_015065.3
p.T286P
c.856A>C
1 paper
NM_015065.3
p.G278E
c.833G>A
1 paper
NM_015065.3
p.N314fs
c.940_941fs
1 paper
NM_015065.3
p.K313delFs
c.939delC
1 paper
NM_015065.3
p.R328Q
c.983G>A
1 paper
NM_015065.3
p.A330T
c.988G>A
1 paper
NM_015065.3
p.R239T
c.716G>C
1 paper
NM_015065.3
p.Q349Q
c.1047G>A
1 paper
NM_015065.3
p.Q221P
c.662A>C
1 paper
NM_015065.3
p.K218_L219insFs
c.654_655insG
1 paper
NM_015065.3
p.R365fs
c.1093_1094fs
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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."