Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.S1236A

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.S1236A
c.3706T>G
Surrounding Variants
1 paper
NM_015065.3
p.T1234A
c.3700A>G
1 paper
NM_015065.3
p.E1241K
c.3721G>A
1 paper
NM_015065.3
p.T1225A
c.3673A>G
1 paper
NM_015065.3
p.E1221*
c.3661G>T
1 paper
NM_015065.3
p.Y1253H
c.3757T>C
5 papers
NM_015065.3
p.L1217*
c.3650T>A
1 paper
NM_015065.3
p.L1205I
c.3613C>A
1 paper
NM_015065.3
p.S1201N
c.3602G>A
1 paper
NM_015065.3
p.A1197P
c.3589G>C
1 paper
NM_015065.3
p.C1173_S1174del2
c.3517_3521del6
1 paper
NM_015065.3
p.S1301C
c.3902C>G
1 paper
NM_015065.3
p.V1170F
c.3508G>T
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