Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.N1047S

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.N1047S
c.3140A>G
Surrounding Variants
1 paper
NM_015065.3
p.L1090V
c.3268C>G
1 paper
NM_015065.3
p.H999R
c.2996A>G
1 paper
NM_015065.3
p.S991G
c.2971A>G
1 paper
NM_015065.3
p.K988R
c.2963A>G
2 papers
NM_001144765.2
p.T920S
c.2758A>T
NM_001144763.2
p.T1032S
c.3094A>T
2 papers
NM_001144765.2
p.T920S
c.2759C>G
NM_001144763.2
p.T1032S
c.3095C>G
1 paper
NM_015065.3
p.R1111*
c.3331A>T
1 paper
NM_015065.3
p.K1112delins
c.3334delinsTTCT
1 paper
NM_015065.3
p.K1112Fs
c.3334delinsTTCTCFs
7 papers
NM_015065.3
p.P966delFs
c.2897delG
4 papers
NM_015065.3
p.P966fs
c.2896_2897fs
1 paper
NM_015065.3
p.T1134A
c.3400A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."