Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.T1735N

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.T1735N
c.5204C>A
Surrounding Variants
1 paper
NM_003458.4
p.R1787*
c.5359C>T
1 paper
NM_003458.4
p.A1809V
c.5426C>T
1 paper
NM_003458.4
p.R1659fs
c.4975_4976fs
1 paper
NM_003458.4
p.G1657insFs
c.4971dupC
1 paper
NM_003458.4
p.A1637A
c.4911T>G
1 paper
NM_003458.4
p.V1834fs
c.5500_5501fs
1 paper
NM_003458.4
p.G1631D
c.4892G>A
1 paper
NM_003458.4
p.Y1630C
c.4889A>G
1 paper
NM_003458.4
p.V1618L
c.4852G>T
1 paper
NM_003458.4
p.G1868*
c.5602G>T
1 paper
NM_003458.4
p.E1881delins
c.5641_5642delinsTT
1 paper
NM_003458.4
p.G1891insFs
c.5672_5673insCG
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