Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.P1453_L1454del1

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.P1453_L1454del1
c.4359_4361delCTT
Surrounding Variants
1 paper
NM_003458.4
p.L1454del1
c.4360_4361delTTG
1 paper
NM_003458.4
p.R1447*
c.4339C>T
1 paper
NM_003458.4
p.L1480F
c.4438C>T
1 paper
NM_003458.4
p.S1481T
c.4441T>A
3 papers
NM_003458.4
p.P1482L
c.4445C>T
1 paper
NM_003458.4
p.G1494fs
c.4480_4481fs
1 paper
NM_003458.4
p.P1513A
c.4537C>G
2 papers
NM_003458.4
p.T1380fs
c.4138_4139fs
2 papers
NM_003458.4
p.T1380delFs
c.4138delA
1 paper
NM_003458.4
p.G1377fs
c.4129_4130fs
1 paper
NM_003458.4
p.P1537S
c.4609C>T
3 papers
NM_003458.4
p.A1562A
c.4686A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."