Varaico: Literature-Extracted Genetic Variants

Gene:SYNPR

SYNPR

28 papers

Pfam Domains

MARVELaa 2–196UCSCMembrane-associating domain

Gene Aliases

HGNC Name

synaptoporin

HGNC Alias Symbol

MGC26651

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
2 papers
NM_001130003.2
p.L20F
c.58C>T
1 paper
NM_001130003.2
p.R14W
c.40C>T
1 paper
NM_001130003.2
p.A21T
c.61G>A
1 paper
NM_001130003.2
p.F22V
c.64T>G
1 paper
NM_001130003.2
p.R24R
c.72A>T
1 paper
NM_001130003.2
p.A25S
c.73G>T
1 paper
NM_144642.5
p.C31*
c.93C>A
1 paper
NM_001130003.2
p.R70T
c.209G>C
1 paper
NM_001130003.2
p.Y112C
c.335A>G
1 paper
NM_001130003.2
p.A115P
c.343G>C
1 paper
NM_001130003.2
p.R132W
c.394C>T
1 paper
NM_001130003.2
p.V162I
c.484G>A
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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."