Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.W510C

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.W510C
c.1530G>C
Surrounding Variants
1 paper
NM_003458.4
p.W510C
c.1530G>T
1 paper
NM_003458.4
p.P534delFs
c.1602delC
1 paper
NM_003458.4
p.T535fs
c.1603_1604fs
1 paper
NM_003458.4
p.K571*
c.1711A>T
1 paper
NM_003458.4
p.P618L
c.1853C>T
1 paper
NM_003458.4
p.P623S
c.1867C>T
1 paper
NM_003458.4
p.A655V
c.1964C>T
1 paper
NM_003458.4
p.A661E
c.1982C>A
1 paper
NM_003458.4
p.E662_D663Splc
c.1986+1G>A
1 paper
NM_003458.4
p.L664delFs
c.1990delC
2 papers
NM_003458.4
p.Q703*
c.2107C>T
1 paper
NM_003458.4
p.V705V
c.2115G>A
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