Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.G1631D

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.G1631D
c.4892G>A
Surrounding Variants
1 paper
NM_003458.4
p.Y1630C
c.4889A>G
1 paper
NM_003458.4
p.A1637A
c.4911T>G
1 paper
NM_003458.4
p.V1618L
c.4852G>T
1 paper
NM_003458.4
p.G1657insFs
c.4971dupC
1 paper
NM_003458.4
p.R1659fs
c.4975_4976fs
3 papers
NM_003458.4
p.A1562A
c.4686A>G
1 paper
NM_003458.4
p.P1537S
c.4609C>T
1 paper
NM_003458.4
p.T1735N
c.5204C>A
1 paper
NM_003458.4
p.P1513A
c.4537C>G
1 paper
NM_003458.4
p.G1494fs
c.4480_4481fs
3 papers
NM_003458.4
p.P1482L
c.4445C>T
1 paper
NM_003458.4
p.S1481T
c.4441T>A
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