Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.M3365V

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
Selected Variant
2 papers
NM_003458.4
p.M3365V
c.10093A>G
Surrounding Variants
1 paper
NM_003458.4
p.R3357C
c.10069C>T
2 papers
NM_003458.4
p.V3381I
c.10141G>A
2 papers
NM_003458.4
p.R3330*
c.9988C>T
1 paper
NM_003458.4
p.G3401A
c.10202G>C
1 paper
NM_003458.4
p.K3403T
c.10208A>C
2 papers
NM_003458.4
p.Q3419*
c.10255C>T
2 papers
NM_003458.4
p.R3442W
c.10324C>T
1 paper
NM_003458.4
p.Y3284fs
c.9850_9851fs
2 papers
NM_003458.4
p.R3264H
c.9791G>A
1 paper
NM_003458.4
p.S3251I
c.9752G>T
1 paper
NM_003458.4
p.L3486V
c.10456C>G
1 paper
NM_003458.4
p.M3488I
c.10464G>A
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