Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.P1342_T1343delFs

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.P1342_T1343delFs
c.4025_4028del4
Surrounding Variants
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.Q1322Q
c.3966G>A
1 paper
NM_015065.3
p.S1379L
c.4136C>T
3 papers
NM_015065.3
p.S1306*
c.3917C>G
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.G1386S
c.4156G>A
1 paper
NM_015065.3
p.S1301C
c.3902C>G
1 paper
NM_015065.3
p.N1404fs
c.4210_4211fs
2 papers
NM_015065.3
p.N1404insFs
c.4211dupA
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