Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.R2405C

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.R2405C
c.7213C>T
Surrounding Variants
1 paper
NM_003458.4
p.R2405H
c.7214G>A
1 paper
NM_003458.4
p.Q2409E
c.7225C>G
1 paper
NM_003458.4
p.V2399V
c.7197G>A
1 paper
NM_003458.4
p.V2399A
c.7196T>C
1 paper
NM_003458.4
p.R2414Q
c.7241G>A
1 paper
NM_003458.4
p.E2393*
c.7177G>T
1 paper
NM_003458.4
p.Q2429L
c.7286A>T
1 paper
NM_003458.4
p.Q2431L
c.7292A>T
2 papers
NM_003458.4
p.E2376*
c.7126G>T
5 papers
NM_003458.4
p.Q2451*
c.7351C>T
1 paper
NM_003458.4
p.Q2456_Q2459del0
c.7366_7377del12
1 paper
NM_003458.4
p.Q2464*
c.7390C>T
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."