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

1 paper

NM_006950.3

p.E52E

c.156G>A

Surrounding Variants

8 papers

NM_006950.3

p.A51G

c.152C>G

1 paper

NM_006950.3

p.S55A

c.163T>G

2 papers

NM_006950.3

p.S62A

c.184T>G

1 paper

NM_006950.3

p.G41delFs

c.122delC

1 paper

NM_006950.3

p.G41fs

c.121_122fs

1 paper

NM_006950.3

p.A65T

c.193G>A

1 paper

NM_006950.3

p.P30_P35del0

c.90_104del15

1 paper

NM_006950.3

p.P28_Q29insFs

c.84_85insG

1 paper

NM_006950.3

p.S79A

c.235T>G

6 papers

NM_006950.3

p.S79W

c.236C>G

1 paper

NM_006950.3

p.D24insFs

c.71dupA

1 paper

NM_006950.3

p.D24insFs

c.70_71insG