Varaico: Literature-Extracted Genetic Variants

Gene:BSN

BSN

150 papers

RefSeq Summary

Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. T...

Pfam Domains

zf-piccoloaa 168–226UCSCPiccolo Zn-finger
zf-piccoloaa 463–521UCSCPiccolo Zn-finger

Gene Aliases

HGNC Name

bassoon presynaptic cytomatrix protein

HGNC Previous Symbol

ZNF231

Papers
RefSeq ID
Protein change
DNA change
1–12 of 294 variants
6 papers
NM_003458.4
p.A741T
c.2221G>A
5 papers
NM_003458.4
p.Q2451*
c.7351C>T
5 papers
NM_003458.4
p.P3866A
c.11596C>G
4 papers
NM_003458.4
p.P2855L
c.8564C>T
4 papers
NM_003458.4
p.R2946Q
c.8837G>A
4 papers
NM_003458.4
p.R3146C
c.9436C>T
4 papers
NM_003458.4
p.G3627V
c.10880G>T
4 papers
NM_003458.4
p.A3863T
c.11587G>A
3 papers
NM_003458.4
p.R1066C
c.3196C>T
3 papers
NM_003458.4
p.E1108*
c.3322G>T
3 papers
NM_003458.4
p.P1482L
c.4445C>T
3 papers
NM_003458.4
p.A1562A
c.4686A>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."