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

1–12 of 182 variants

23 papers

NM_006950.3

p.Q555*

c.1663C>T

17 papers

NM_006950.3

p.W356*

c.1067G>A

17 papers

NM_006950.3

p.W356*

c.1068G>A

14 papers

NM_006950.3

p.A550T

c.1648G>A

13 papers

NM_006950.3

p.T567A

c.1699A>G

8 papers

NM_006950.3

p.A51G

c.152C>G

6 papers

NM_006950.3

p.S79W

c.236C>G

6 papers

NM_006950.3

p.R176Splc

c.527+1G>T

6 papers

NM_006950.3

p.Q603*

c.1807C>T

4 papers

NM_006950.3

p.W126R

c.376T>C

4 papers

NM_006950.3

p.W126R

c.376T>A

4 papers

NM_006950.3

p.S212I

c.635G>T