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.R484C

c.1450C>T

Surrounding Variants

3 papers

NM_006950.3

p.Q483*

c.1447C>T

1 paper

NM_006950.3

p.P485P

c.1455G>A

4 papers

NM_006950.3

p.Q482*

c.1444C>T

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

1 paper

NM_006950.3

p.Q477_P479del3

c.1429_1436del9

3 papers

NM_006950.3

p.Q491fs

c.1471_1472fs

3 papers

NM_006950.3

p.Q491insFs

c.1472_1473insT

1 paper

NM_006950.3

p.Q475*

c.1423C>T

4 papers

NM_006950.3

p.P470fs

c.1408_1409fs

4 papers

NM_006950.3

p.Q469insFs

c.1406dupA