Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.L2505F

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.L2505F
c.7513C>T
Surrounding Variants
1 paper
NM_003458.4
p.R2486*
c.7456C>T
1 paper
NM_003458.4
p.A2480T
c.7438G>A
1 paper
NM_003458.4
p.A2479S
c.7435G>T
2 papers
NM_003458.4
p.T2542M
c.7625C>T
1 paper
NM_003458.4
p.Q2464*
c.7390C>T
1 paper
NM_003458.4
p.Q2456_Q2459del0
c.7366_7377del12
5 papers
NM_003458.4
p.Q2451*
c.7351C>T
1 paper
NM_003458.4
p.R2578K
c.7733G>A
1 paper
NM_003458.4
p.Q2431L
c.7292A>T
1 paper
NM_003458.4
p.Q2429L
c.7286A>T
1 paper
NM_003458.4
p.R2414Q
c.7241G>A
1 paper
NM_003458.4
p.L2598delFs
c.7792_7793delTT
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