Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.P2855L

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
4 papers
NM_003458.4
p.P2855L
c.8564C>T
Surrounding Variants
1 paper
NM_003458.4
p.L2846fs
c.8536_8537fs
1 paper
NM_003458.4
p.Q2872E
c.8614C>G
2 papers
NM_003458.4
p.Q2872*
c.8614C>T
1 paper
NM_003458.4
p.G2876_L2877Fs
c.8628_8629delinsAFs
1 paper
NM_003458.4
p.L2877fs
c.8629_8630fs
1 paper
NM_003458.4
p.A2830V
c.8489C>T
2 papers
NM_003458.4
p.V2822M
c.8464G>A
1 paper
NM_003458.4
p.R2785H
c.8354G>A
2 papers
NM_003458.4
p.E2759G
c.8276A>G
1 paper
NM_003458.4
p.Q2725H
c.8175G>T
1 paper
NM_003458.4
p.D2723G
c.8168A>G
2 papers
NM_003458.4
p.T2720fs
c.8158_8159fs
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