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

1–12 of 54 variants

14 papers

NM_003490.4

p.L211V

c.631C>G

12 papers

NM_003490.4

p.A66T

c.196G>A

11 papers

NM_003490.4

p.S470N

c.1409G>A

5 papers

NM_003490.4

p.E525Q

c.1573G>C

3 papers

NM_003490.4

p.R443H

c.1328G>A

3 papers

NM_003490.4

p.P468S

c.1402C>T

3 papers

NM_003490.4

p.P534L

c.1601C>T

2 papers

NM_003490.4

p.T23T

c.69G>A

2 papers

NM_003490.4

p.F223L

c.669C>A

1 paper

NM_003490.4

p.P47fs

c.139_140fs

1 paper

NM_003490.4

p.P55A

c.163C>G

1 paper

NM_003490.4

p.G56R

c.166G>C