Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.S1306*

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
3 papers
NM_015065.3
p.S1306*
c.3917C>G
Surrounding Variants
3 papers
NM_015065.3
p.S1306*
c.3917C>A
2 papers
NM_015065.3
p.R1303Q
c.3908G>A
1 paper
NM_001144763.2
p.T1226R
c.3677C>G
1 paper
NM_015065.3
p.S1301C
c.3902C>G
1 paper
NM_015065.3
p.Q1322Q
c.3966G>A
1 paper
NM_015065.3
p.P1339T
c.4015C>A
1 paper
NM_015065.3
p.G1338delFs
c.4013_4014delCC
1 paper
NM_015065.3
p.P1342_T1343delFs
c.4025_4028del4
1 paper
NM_015065.3
p.Y1253H
c.3757T>C
1 paper
NM_015065.3
p.E1241K
c.3721G>A
1 paper
NM_015065.3
p.S1236A
c.3706T>G
1 paper
NM_015065.3
p.T1234A
c.3700A>G
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