Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.L2598delFs

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.L2598delFs
c.7792_7793delTT
Surrounding Variants
1 paper
NM_003458.4
p.R2601*
c.7801C>T
1 paper
NM_003458.4
p.R2602C
c.7804C>T
1 paper
NM_003458.4
p.R2603Q
c.7808G>A
1 paper
NM_003458.4
p.R2606W
c.7816C>T
1 paper
NM_003458.4
p.T2614S
c.7840A>T
1 paper
NM_003458.4
p.R2578K
c.7733G>A
1 paper
NM_003458.4
p.R2628C
c.7882C>T
1 paper
NM_003458.4
p.L2633L
c.7899T>C
1 paper
NM_003458.4
p.S2639*
c.7916C>A
2 papers
NM_003458.4
p.S2639*
c.7916C>G
1 paper
NM_003458.4
p.H2645Y
c.7933C>T
2 papers
NM_003458.4
p.T2542M
c.7625C>T
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