Varaico: Literature-Extracted Genetic Variants

Gene:SYP

SYP

443 papers

RefSeq Summary

This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated memb...

Pfam Domains

MARVELaa 21–221UCSCMembrane-associating domain

Gene Aliases

HGNC Name

synaptophysin

HGNC Alias Symbol

MRX96

Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
9 papers
NM_003179.3
p.Q18L
c.53A>T
3 papers
NM_003179.3
p.G217R
c.649G>C
3 papers
NM_003179.3
p.G293S
c.877G>A
2 papers
NM_003179.3
p.M1V
c.1A>G
2 papers
NM_003179.3
p.L4L
c.12G>C
2 papers
NM_003179.3
p.V14E
c.41T>A
2 papers
NM_003179.3
p.R20Q
c.59G>A
2 papers
NM_003179.3
p.V29E
c.86T>A
2 papers
NM_003179.3
p.V31insFs
c.91_92ins5
2 papers
NM_003179.3
p.A84G
c.251C>G
2 papers
NM_003179.3
p.T86A
c.256A>G
2 papers
NM_003179.3
p.T92insFs
c.274_275insA
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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."