Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.T1380delFs

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.T1380delFs
c.4138delA
Surrounding Variants
2 papers
NM_003458.4
p.T1380fs
c.4138_4139fs
1 paper
NM_003458.4
p.G1377fs
c.4129_4130fs
1 paper
NM_003458.4
p.T1343I
c.4028C>T
1 paper
NM_003458.4
p.F1323fs
c.3967_3968fs
1 paper
NM_003458.4
p.R1447*
c.4339C>T
1 paper
NM_003458.4
p.P1453_L1454del1
c.4359_4361delCTT
1 paper
NM_003458.4
p.L1454del1
c.4360_4361delTTG
1 paper
NM_003458.4
p.K1288M
c.3863A>T
1 paper
NM_003458.4
p.L1480F
c.4438C>T
1 paper
NM_003458.4
p.S1481T
c.4441T>A
3 papers
NM_003458.4
p.P1482L
c.4445C>T
2 papers
NM_003458.4
p.R1276*
c.3826C>T
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