Varaico: Literature-Extracted Genetic Variants

SYN2

68 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 2–26UCSCSynapsin N-terminal domain

Synapsinaa 109–212UCSCSynapsin pre-ATP-grasp domain

Synapsin_Caa 214–416UCSCSynapsin, ATP binding domain

Gene Aliases

HGNC Name

synapsin II

HGNC Alias Symbols

SYNII; SYNIIa; SYNIIb

Papers

RefSeq ID

Protein change

DNA change

1–12 of 48 variants

7 papers

NM_133625.6

p.Y236S

c.707A>C

7 papers

NM_133625.6

p.G464R

c.1390G>A

7 papers

NM_133625.6

p.G464R

c.1390G>C

3 papers

NM_133625.6

p.A67ins4

c.200_201ins12

3 papers

NM_133625.6

p.P105A

c.313C>G

2 papers

NM_133625.6

p.A67insFs

c.200_201ins4

2 papers

NM_133625.6

p.H200_L201ins4

c.598_602ins12

2 papers

NM_133625.6

p.H200_L201ins12

c.598_602ins36

2 papers

NM_133625.6

p.P211A

c.631C>G

2 papers

NM_133625.6

p.T506A

c.1516A>G

1 paper

NM_133625.6

p.D11G

c.32A>G

1 paper

NM_133625.6

p.A16delFs

c.48delC