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.Q249*

c.745C>T

Surrounding Variants

1 paper

NM_006950.3

p.Q249H

c.747G>T

1 paper

NM_006950.3

p.Q249H

c.747G>C

1 paper

NM_006950.3

p.G240W

c.718G>T

4 papers

NM_006950.3

p.G240R

c.718G>C

4 papers

NM_006950.3

p.G240R

c.718G>A

1 paper

NM_006950.3

p.L239P

c.716T>C

3 papers

NM_006950.3

p.M258I

c.774G>T

3 papers

NM_006950.3

p.M258I

c.774G>C

3 papers

NM_006950.3

p.M258I

c.774G>A

2 papers

NM_006950.3

p.M258_L259Splc

c.774+2T>C

1 paper

NM_006950.3

p.A230V

c.689C>T

1 paper

NM_006950.3

p.Y220*

c.660C>G