Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.R3774P

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
1 paper
NM_003458.4
p.R3774P
c.11321G>C
Surrounding Variants
1 paper
NM_003458.4
p.P3745L
c.11234C>T
1 paper
NM_003458.4
p.R3808Q
c.11423G>A
1 paper
NM_003458.4
p.G3830D
c.11489G>A
1 paper
NM_003458.4
p.Q3707*
c.11119C>T
1 paper
NM_003458.4
p.P3697L
c.11090C>T
2 papers
NM_003458.4
p.R3672Q
c.11015G>A
2 papers
NM_003458.4
p.R3664Q
c.10991G>A
1 paper
NM_003458.4
p.G3663V
c.10988G>T
2 papers
NM_003458.4
p.T3658S
c.10973C>G
2 papers
NM_003458.4
p.T3658S
c.10972A>T
1 paper
NM_003458.4
p.A3851insFs
c.11551_11552ins4
1 paper
NM_003458.4
p.Q3854fs
c.11560_11561fs
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