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.R507L

c.1520G>T

Surrounding Variants

3 papers

NM_006950.3

p.Q491insFs

c.1472_1473insT

3 papers

NM_006950.3

p.Q491fs

c.1471_1472fs

1 paper

NM_006950.3

p.P525L

c.1574C>T

1 paper

NM_006950.3

p.P485P

c.1455G>A

1 paper

NM_006950.3

p.G530V

c.1589G>T

1 paper

NM_006950.3

p.R484C

c.1450C>T

3 papers

NM_006950.3

p.Q483*

c.1447C>T

4 papers

NM_006950.3

p.Q482*

c.1444C>T

1 paper

NM_006950.3

p.S533A

c.1597T>G

2 papers

NM_006950.3

p.L481fs

c.1441_1442fs

1 paper

NM_006950.3

p.L481fs

c.1441_1442fs

2 papers

NM_006950.3

p.P480insFs

c.1439dupC