Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.Q1464*

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.Q1464*
c.4390C>T
Surrounding Variants
1 paper
NM_015065.3
p.G1458E
c.4373G>A
2 papers
NM_015065.3
p.G1475R
c.4423G>C
2 papers
NM_015065.3
p.G1475S
c.4423G>A
1 paper
NM_015065.3
p.S1477N
c.4430G>A
1 paper
NM_015065.3
p.G1486E
c.4457G>A
1 paper
NM_015065.3
p.E1432_G1436delFs
c.4294_4306del13
1 paper
NM_015065.3
p.E1432fs
c.4294_4295fs
1 paper
NM_015065.3
p.S1503L
c.4508C>T
2 papers
NM_015065.3
p.V1507I
c.4519G>A
1 paper
NM_015065.3
p.Q1518K
c.4552C>A
1 paper
NM_015065.3
p.L1519R
c.4556T>G
2 papers
NM_015065.3
p.N1404insFs
c.4211dupA
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