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.K318N

c.954G>T

Surrounding Variants

2 papers

NM_006950.3

p.K318N

c.954G>C

1 paper

NM_006950.3

p.I319T

c.956T>C

1 paper

NM_006950.3

p.Q321R

c.962A>G

3 papers

NM_006950.3

p.A325delFs

c.975delG

3 papers

NM_006950.3

p.Y326fs

c.976_977fs

2 papers

NM_006950.3

p.M327fs

c.979_980fs

2 papers

NM_006950.3

p.A310D

c.929C>A

1 paper

NM_006950.3

p.D309N

c.925G>A

1 paper

NM_006950.3

p.M327Splc

c.980+5G>C

1 paper

NM_006950.3

p.T300M

c.899C>T

1 paper

NM_006950.3

p.V280_Q289del0

c.838_867del30

1 paper

NM_006950.3

p.D283N

c.847G>A