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.E147D

c.441A>T

Surrounding Variants

1 paper

NM_006950.3

p.A146T

c.436G>A

3 papers

NM_006950.3

p.Q145_A146Splc

c.436-1G>C

1 paper

NM_006950.3

p.L151insFs

c.451dupC

1 paper

NM_006950.3

p.N158insFs

c.473_474insT

1 paper

NM_006950.3

p.G160E

c.479G>A

2 papers

NM_006950.3

p.G159_G160del1

c.477_479delCCA

2 papers

NM_006950.3

p.G160del1

c.478_479delTCC

1 paper

NM_006950.3

p.E166D

c.498A>T

1 paper

NM_006950.3

p.E166D

c.498A>C

1 paper

NM_006950.3

p.Q145_A146Splc

c.435+27G>C

6 papers

NM_006950.3

p.R176Splc

c.527+1G>T

1 paper

NM_006950.3

p.R176Splc

c.527+1G>A