Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.R976H

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.R976H
c.2927G>A
Surrounding Variants
1 paper
NM_003458.4
p.S1001fs
c.3001_3002fs
1 paper
NM_003458.4
p.S1006R
c.3016A>C
1 paper
NM_003458.4
p.S1006R
c.3018T>A
1 paper
NM_003458.4
p.S1006R
c.3018T>G
1 paper
NM_003458.4
p.R1028H
c.3083G>A
1 paper
NM_003458.4
p.R1047W
c.3139C>T
1 paper
NM_003458.4
p.T903M
c.2708C>T
1 paper
NM_003458.4
p.V1062delFs
c.3184delG
3 papers
NM_003458.4
p.R1066C
c.3196C>T
1 paper
NM_003458.4
p.R882_E884del0
c.2646_2651del6
1 paper
NM_003458.4
p.T1070T
c.3210G>A
1 paper
NM_003458.4
p.H872fs
c.2614_2615fs
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