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

Selected Variant

1 paper

NM_133625.6

p.A16delFs

c.48delC

Surrounding Variants

1 paper

NM_133625.6

p.P19S

c.55C>T

1 paper

NM_133625.6

p.D11G

c.32A>G

1 paper

NM_133625.6

p.Y22F

c.65A>T

1 paper

NM_133625.6

p.M23I

c.69G>A

1 paper

NM_133625.6

p.Q33delFs

c.98delA

1 paper

NM_133625.6

p.P34L

c.101C>T

1 paper

NM_133625.6

p.P37A

c.109C>G

1 paper

NM_133625.6

p.P40S

c.118C>T

1 paper

NM_133625.6

p.S48del1

c.142_143delTCG

1 paper

NM_133625.6

p.A65T

c.193G>A

2 papers

NM_133625.6

p.A67insFs

c.200_201ins4

3 papers

NM_133625.6

p.A67ins4

c.200_201ins12