Varaico: Literature-Extracted Genetic Variants

SYN3

74 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 87–191UCSCSynapsin pre-ATP-grasp domain

Synapsin_Caa 193–395UCSCSynapsin, ATP binding domain

Gene Aliases

HGNC Name

synapsin III

HGNC Alias Name

Synapsin-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003490.4

p.P55A

c.163C>G

Surrounding Variants

1 paper

NM_003490.4

p.G56R

c.166G>C

1 paper

NM_003490.4

p.G56A

c.167G>C

1 paper

NM_003490.4

p.P47fs

c.139_140fs

12 papers

NM_003490.4

p.A66T

c.196G>A

1 paper

NM_003490.4

p.Q69insFs

c.206dupA

1 paper

NM_003490.4

p.P80fs

c.238_239fs

1 paper

NM_003490.4

p.P81R

c.242C>G

2 papers

NM_003490.4

p.T23T

c.69G>A