Varaico: Literature-Extracted Genetic Variants

SYN1

220 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 110–212UCSCSynapsin pre-ATP-grasp domain

Synapsin_Caa 214–416UCSCSynapsin, ATP binding domain

Gene Aliases

HGNC Name

synapsin I

HGNC Previous Symbol

MRX50

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_006950.3

p.W126R

c.376T>A

Surrounding Variants

4 papers

NM_006950.3

p.W126R

c.376T>C

3 papers

NM_006950.3

p.W126*

c.377G>A

3 papers

NM_006950.3

p.W126*

c.378G>A

1 paper

NM_006950.3

p.W126Splc

c.378-11T>C

1 paper

NM_006950.3

p.E138*

c.412G>T

1 paper

NM_006950.3

p.Q145_A146Splc

c.435+1G>A

1 paper

NM_006950.3

p.Q145_A146Splc

c.435+27G>C

3 papers

NM_006950.3

p.Q145_A146Splc

c.436-1G>C

1 paper

NM_006950.3

p.A146T

c.436G>A

1 paper

NM_006950.3

p.E147D

c.441A>T

1 paper

NM_006950.3

p.L151insFs

c.451dupC

1 paper

NM_006950.3

p.N158insFs

c.473_474insT