Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.S750*

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
5 papers
NM_015065.3
p.S750*
c.2249C>A
Surrounding Variants
3 papers
NM_015065.3
p.S750*
c.2249C>G
1 paper
NM_015065.3
p.N754N
c.2262C>T
2 papers
NM_015065.3
p.D741H
c.2221G>C
1 paper
NM_015065.3
p.S765T
c.2294G>C
1 paper
NM_015065.3
p.V772F
c.2314G>T
1 paper
NM_015065.3
p.D777N
c.2329G>A
1 paper
NM_015065.3
p.P784L
c.2351C>T
1 paper
NM_015065.3
p.K687Q
c.2059A>C
4 papers
NM_015065.3
p.S676N
c.2027G>A
1 paper
NM_015065.3
p.S668_V672delFs
c.2004_2014del11
1 paper
NM_015065.3
p.T670fs
c.2008_2009fs
1 paper
NM_015065.3
p.M666I
c.1998G>T
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