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

6 papers

NM_006950.3

p.Q603*

c.1807C>T

Surrounding Variants

1 paper

NM_006950.3

p.Q603L

c.1808A>T

1 paper

NM_006950.3

p.R602L

c.1805G>T

3 papers

NM_006950.3

p.T601fs

c.1801_1802fs

1 paper

NM_006950.3

p.G596V

c.1787G>T

1 paper

NM_006950.3

p.K593insFs

c.1779dupA

1 paper

NM_006950.3

p.R612L

c.1835G>T

2 papers

NM_006950.3

p.R587_P591ins1

c.1760_1771dup12

2 papers

NM_006950.3

p.A577delFs

c.1729delC

2 papers

NM_006950.3

p.A577fs

c.1729_1730fs

1 paper

NM_006950.3

p.G571S

c.1711G>A

13 papers

NM_006950.3

p.T567A

c.1699A>G

1 paper

NM_006950.3

p.T567P

c.1699A>C