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

7 papers

NM_133625.6

p.Y236S

c.707A>C

Surrounding Variants

1 paper

NM_133625.6

p.P253A

c.757C>G

1 paper

NM_133625.6

p.K256E

c.766A>G

1 paper

NM_133625.6

p.P226P

c.678A>T

1 paper

NM_133625.6

p.F222L

c.666C>A

1 paper

NM_133625.6

p.F222L

c.666C>G

1 paper

NM_133625.6

p.F222L

c.664T>C

1 paper

NM_133625.6

p.S218_F222del5

c.652_665del15

1 paper

NM_133625.6

p.E217insFs

c.650_651insC

2 papers

NM_133625.6

p.P211A

c.631C>G

2 papers

NM_133625.6

p.H200_L201ins4

c.598_602ins12

2 papers

NM_133625.6

p.H200_L201ins12

c.598_602ins36

1 paper

NM_133625.6

p.H188Y

c.562C>T