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.S81C

c.242C>G

Surrounding Variants

6 papers

NM_006950.3

p.S79W

c.236C>G

1 paper

NM_006950.3

p.S79A

c.235T>G

1 paper

NM_006950.3

p.T87A

c.259A>G

1 paper

NM_006950.3

p.A91A

c.273A>T

1 paper

NM_006950.3

p.A65T

c.193G>A

2 papers

NM_006950.3

p.S62A

c.184T>G

1 paper

NM_006950.3

p.A90_G104del15

c.268_311del45

1 paper

NM_006950.3

p.S55A

c.163T>G

1 paper

NM_006950.3

p.G107G

c.321C>T

1 paper

NM_006950.3

p.E52E

c.156G>A

8 papers

NM_006950.3

p.A51G

c.152C>G

1 paper

NM_006950.3

p.S113T

c.337T>A