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

3 papers

NM_006950.3

p.F13fs

c.37_38fs

Surrounding Variants

3 papers

NM_006950.3

p.F13delFs

c.39delA

2 papers

NM_006950.3

p.S11T

c.32G>C

1 paper

NM_006950.3

p.L8insFs

c.23dupT

1 paper

NM_006950.3

p.L8delFs

c.23delA

1 paper

NM_006950.3

p.R7R

c.21C>G

1 paper

NM_006950.3

p.L4L

c.12G>A

2 papers

NM_006950.3

p.M1delFs

c.2delA

1 paper

NM_006950.3

p.D24insFs

c.70_71insG

1 paper

NM_006950.3

p.D24insFs

c.71dupA

1 paper

NM_006950.3

p.M1V

c.1A>G

1 paper

NM_006950.3

p.P28_Q29insFs

c.84_85insG

1 paper

NM_006950.3

p.P30_P35del0

c.90_104del15