Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.F507L

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.F507L
c.1521T>A
Surrounding Variants
1 paper
NM_015065.3
p.F507L
c.1521T>G
1 paper
NM_015065.3
p.F507L
c.1519T>C
1 paper
NM_015065.3
p.M512L
c.1534A>T
1 paper
NM_015065.3
p.M512L
c.1534A>C
2 papers
NM_015065.3
p.V525F
c.1573G>T
1 paper
NM_015065.3
p.S532P
c.1594T>C
1 paper
NM_015065.3
p.R468*
c.1402C>T
4 papers
NM_015065.3
p.F466fs
c.1396_1397fs
7 papers
NM_015065.3
p.T465delFs
c.1395delG
1 paper
NM_015065.3
p.F450I
c.1348T>A
1 paper
NM_015065.3
p.G578S
c.1732G>A
1 paper
NM_015065.3
p.G578V
c.1733G>T
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