Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.P1211S

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
2 papers
NM_003458.4
p.P1211S
c.3631C>T
Surrounding Variants
2 papers
NM_003458.4
p.G1213D
c.3638G>A
1 paper
NM_003458.4
p.R1222delFs
c.3665delG
1 paper
NM_003458.4
p.Q1230*
c.3688C>T
1 paper
NM_003458.4
p.T1233A
c.3697A>G
1 paper
NM_003458.4
p.T1233I
c.3698C>T
1 paper
NM_003458.4
p.S1251N
c.3752G>A
1 paper
NM_003458.4
p.S1169S
c.3507C>T
1 paper
NM_003458.4
p.G1253fs
c.3757_3758fs
2 papers
NM_003458.4
p.T1167A
c.3499A>G
1 paper
NM_003458.4
p.E1259D
c.3777A>C
1 paper
NM_003458.4
p.A1273S
c.3817G>T
2 papers
NM_003458.4
p.R1276*
c.3826C>T
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