Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.P3538H

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.P3538H
c.10613C>A
Surrounding Variants
1 paper
NM_003458.4
p.Q3541*
c.10621C>T
1 paper
NM_003458.4
p.S3533P
c.10597T>C
2 papers
NM_003458.4
p.G3525W
c.10573G>T
1 paper
NM_003458.4
p.P3520L
c.10559C>T
1 paper
NM_003458.4
p.S3499S
c.10497C>T
1 paper
NM_003458.4
p.M3497T
c.10490T>C
2 papers
NM_003458.4
p.R3494*
c.10480C>T
1 paper
NM_003458.4
p.M3488I
c.10464G>A
1 paper
NM_003458.4
p.L3486V
c.10456C>G
2 papers
NM_003458.4
p.R3442W
c.10324C>T
2 papers
NM_003458.4
p.Q3419*
c.10255C>T
1 paper
NM_003458.4
p.K3403T
c.10208A>C
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