Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.G1891insFs

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.G1891insFs
c.5672_5673insCG
Surrounding Variants
1 paper
NM_003458.4
p.L1898M
c.5692C>A
1 paper
NM_003458.4
p.E1881delins
c.5641_5642delinsTT
1 paper
NM_003458.4
p.M1903V
c.5707A>G
1 paper
NM_003458.4
p.G1868*
c.5602G>T
1 paper
NM_003458.4
p.A1929fs
c.5785_5786fs
1 paper
NM_003458.4
p.V1834fs
c.5500_5501fs
2 papers
NM_003458.4
p.A1957T
c.5869G>A
1 paper
NM_003458.4
p.Q1958fs
c.5872_5873fs
1 paper
NM_003458.4
p.Q1958delFs
c.5873_5874delAG
1 paper
NM_003458.4
p.A1809V
c.5426C>T
1 paper
NM_003458.4
p.R1787*
c.5359C>T
1 paper
NM_003458.4
p.I2001M
c.6003C>G
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