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

14 papers

NM_003490.4

p.L211V

c.631C>G

Surrounding Variants

2 papers

NM_003490.4

p.F223L

c.669C>A

1 paper

NM_003490.4

p.M237_V238Splc

c.711+2685C>T

1 paper

NM_003490.4

p.M237_V238Splc

c.711+3416G>C

1 paper

NM_003490.4

p.S194F

c.581C>T

1 paper

NM_003490.4

p.P190fs

c.568_569fs

1 paper

NM_003490.4

p.G183S

c.547G>A

1 paper

NM_003490.4

p.G174W

c.520G>T

1 paper

NM_003490.4

p.S170C

c.508A>T

1 paper

NM_003490.4

p.R165H

c.494G>A

1 paper

NM_003490.4

p.M237_V238Splc

c.711+5032C>T

1 paper

NM_003490.4

p.S154Splc

c.462-2055A>G