Varaico: Literature-Extracted Genetic Variants

SYN1

220 papers

RefSeq Summary

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by comm...

Pfam Domains

Synapsin_Naa 1–25UCSCSynapsin N-terminal domain

Synapsinaa 110–212UCSCSynapsin pre-ATP-grasp domain

Synapsin_Caa 214–416UCSCSynapsin, ATP binding domain

Gene Aliases

HGNC Name

synapsin I

HGNC Previous Symbol

MRX50

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006950.3

p.R176Splc

c.528-2A>T

Surrounding Variants

1 paper

NM_006950.3

p.H188Y

c.562C>T

1 paper

NM_006950.3

p.G196*

c.586G>T

3 papers

NM_006950.3

p.L205Q

c.614T>A

2 papers

NM_006950.3

p.L205_Q206ins0

c.614_616dupTGC

1 paper

NM_006950.3

p.G209A

c.626G>C

2 papers

NM_006950.3

p.P211A

c.631C>G

4 papers

NM_006950.3

p.S212I

c.635G>T

1 paper

NM_006950.3

p.N214insFs

c.641_642insC

1 paper

NM_006950.3

p.Y220*

c.660C>G

1 paper

NM_006950.3

p.Y220*

c.660C>A

1 paper

NM_006950.3

p.A230V

c.689C>T

1 paper

NM_006950.3

p.L239P

c.716T>C