Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.N2163K

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.N2163K
c.6489C>A
Surrounding Variants
1 paper
NM_003458.4
p.G2162E
c.6485G>A
1 paper
NM_003458.4
p.P2161L
c.6482C>T
1 paper
NM_003458.4
p.S2196L
c.6587C>T
1 paper
NM_003458.4
p.R2217W
c.6649C>T
1 paper
NM_003458.4
p.S2099G
c.6295A>G
1 paper
NM_003458.4
p.Y2228*
c.6684C>A
1 paper
NM_003458.4
p.Y2228*
c.6684C>G
1 paper
NM_003458.4
p.Y2073*
c.6219C>A
1 paper
NM_003458.4
p.Y2073*
c.6219C>G
1 paper
NM_003458.4
p.R2059Q
c.6176G>A
1 paper
NM_003458.4
p.Y2281C
c.6842A>G
1 paper
NM_003458.4
p.I2001M
c.6003C>G
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