Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5

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
1–12 of 181 variants
9 papers
NM_015065.3
p.P1929delFs
c.5786delG
7 papers
NM_015065.3
p.T465delFs
c.1395delG
7 papers
NM_015065.3
p.P966delFs
c.2897delG
6 papers
NM_015065.3
p.R19G
c.55A>G
6 papers
NM_015065.3
p.P649insFs
c.1947dupC
5 papers
NM_015065.3
p.S750*
c.2249C>A
5 papers
NM_015065.3
p.L1217*
c.3650T>A
5 papers
NM_015065.3
p.R1808*
c.5422C>T
4 papers
NM_015065.3
p.F466fs
c.1396_1397fs
4 papers
NM_015065.3
p.S676N
c.2027G>A
4 papers
NM_015065.3
p.P966fs
c.2896_2897fs
4 papers
NM_015065.3
p.P1929fs
c.5785_5786fs
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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."