Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.R2946Q

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.R2946Q
c.8837G>A
Surrounding Variants
1 paper
NM_003458.4
p.D2947V
c.8840A>T
1 paper
NM_003458.4
p.V2951G
c.8852T>G
1 paper
NM_003458.4
p.V2933I
c.8797G>A
1 paper
NM_003458.4
p.R2925*
c.8773C>T
1 paper
NM_003458.4
p.P2915fs
c.8743_8744fs
1 paper
NM_003458.4
p.P3001R
c.9002C>G
1 paper
NM_003458.4
p.D3010N
c.9028G>A
1 paper
NM_003458.4
p.Q2880_V2881Splc
c.8641-2A>G
2 papers
NM_003458.4
p.S3013L
c.9038C>T
1 paper
NM_003458.4
p.R3021Q
c.9062G>A
1 paper
NM_003458.4
p.T3044delFs
c.9131delC
1 paper
NM_003458.4
p.Q3052*
c.9154C>T
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