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

2 papers

NM_133625.6

p.A67insFs

c.200_201ins4

Surrounding Variants

3 papers

NM_133625.6

p.A67ins4

c.200_201ins12

1 paper

NM_133625.6

p.A67V

c.200C>T

1 paper

NM_133625.6

p.A65T

c.193G>A

1 paper

NM_133625.6

p.A73_P74delFs

c.218_222del5

1 paper

NM_133625.6

p.A73fs

c.217_218fs

1 paper

NM_133625.6

p.S48del1

c.142_143delTCG

1 paper

NM_133625.6

p.P40S

c.118C>T

1 paper

NM_133625.6

p.A94fs

c.280_281fs

1 paper

NM_133625.6

p.S96S

c.288G>C

1 paper

NM_133625.6

p.P37A

c.109C>G

1 paper

NM_133625.6

p.P34L

c.101C>T

1 paper

NM_133625.6

p.Q33delFs

c.98delA