Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.H3219R

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.H3219R
c.9656A>G
Surrounding Variants
1 paper
NM_003458.4
p.A3211D
c.9632C>A
1 paper
NM_003458.4
p.S3207R
c.9621C>A
1 paper
NM_003458.4
p.I3237fs
c.9709_9710fs
1 paper
NM_003458.4
p.S3251I
c.9752G>T
2 papers
NM_003458.4
p.R3264H
c.9791G>A
1 paper
NM_003458.4
p.V3168I
c.9502G>A
2 papers
NM_003458.4
p.P3167T
c.9499C>A
1 paper
NM_003458.4
p.Q3155*
c.9463C>T
1 paper
NM_003458.4
p.Y3284fs
c.9850_9851fs
4 papers
NM_003458.4
p.R3146C
c.9436C>T
1 paper
NM_003458.4
p.A3136T
c.9406G>A
2 papers
NM_003458.4
p.R3330*
c.9988C>T
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