Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.P392fs

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.P392fs
c.1174_1175fs
Surrounding Variants
1 paper
NM_015065.3
p.A391_P392delFs
c.1173_1174delGT
2 papers
NM_015065.3
p.Q385*
c.1153C>T
1 paper
NM_015065.3
p.G408fs
c.1222_1223fs
1 paper
NM_015065.3
p.G408delFs
c.1223delC
1 paper
NM_015065.3
p.F409I
c.1225T>A
1 paper
NM_015065.3
p.W373*
c.1119G>A
1 paper
NM_015065.3
p.W373*
c.1118G>A
1 paper
NM_015065.3
p.E411D
c.1233G>T
1 paper
NM_015065.3
p.E411D
c.1233G>C
1 paper
NM_015065.3
p.R365fs
c.1093_1094fs
1 paper
NM_015065.3
p.Q349Q
c.1047G>A
1 paper
NM_015065.3
p.A436E
c.1307C>A
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