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.T567P

c.1699A>C

Surrounding Variants

13 papers

NM_006950.3

p.T567A

c.1699A>G

1 paper

NM_006950.3

p.R565H

c.1694G>A

1 paper

NM_006950.3

p.G571S

c.1711G>A

2 papers

NM_006950.3

p.A577fs

c.1729_1730fs

2 papers

NM_006950.3

p.A577delFs

c.1729delC

2 papers

NM_006950.3

p.R556C

c.1666C>T

23 papers

NM_006950.3

p.Q555*

c.1663C>T

1 paper

NM_006950.3

p.P554L

c.1661C>T

1 paper

NM_006950.3

p.S551fs

c.1651_1652fs

4 papers

NM_006950.3

p.P549_A550insFs

c.1647_1650dup4

3 papers

NM_006950.3

p.S551fs

c.1651_1652fs

14 papers

NM_006950.3

p.A550T

c.1648G>A