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.I363V

c.1087A>G

Surrounding Variants

2 papers

NM_006950.3

p.T359K

c.1076C>A

1 paper

NM_006950.3

p.G366fs

c.1096_1097fs

2 papers

NM_006950.3

p.D358N

c.1072G>A

17 papers

NM_006950.3

p.W356*

c.1068G>A

17 papers

NM_006950.3

p.W356*

c.1067G>A

1 paper

NM_006950.3

p.A371T

c.1111G>A

3 papers

NM_006950.3

p.E373K

c.1117G>A

1 paper

NM_006950.3

p.A374V

c.1121C>T

1 paper

NM_006950.3

p.S341A

c.1021T>G

1 paper

NM_006950.3

p.T339A

c.1015A>G

1 paper

NM_006950.3

p.T337A

c.1009A>G

2 papers

NM_006950.3

p.N334delFs

c.1001delT