Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.P784L

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.P784L
c.2351C>T
Surrounding Variants
1 paper
NM_015065.3
p.D777N
c.2329G>A
1 paper
NM_015065.3
p.V772F
c.2314G>T
1 paper
NM_015065.3
p.S765T
c.2294G>C
1 paper
NM_015065.3
p.N754N
c.2262C>T
3 papers
NM_015065.3
p.S750*
c.2249C>G
5 papers
NM_015065.3
p.S750*
c.2249C>A
2 papers
NM_015065.3
p.D741H
c.2221G>C
1 paper
NM_015065.3
p.E838*
c.2512G>T
1 paper
NM_015065.3
p.H848fs
c.2542_2543fs
2 papers
NM_015065.3
p.H848delFs
c.2542delG
2 papers
NM_015065.3
p.L853P
c.2558T>C
1 paper
NM_015065.3
p.K865T
c.2594A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."