Varaico: Literature-Extracted Genetic Variants

SYN3

74 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 87–191UCSCSynapsin pre-ATP-grasp domain

Synapsin_Caa 193–395UCSCSynapsin, ATP binding domain

Gene Aliases

HGNC Name

synapsin III

HGNC Alias Name

Synapsin-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003490.4

p.P534L

c.1601C>T

Surrounding Variants

1 paper

NM_003490.4

p.N537H

c.1609A>C

1 paper

NM_003490.4

p.K528_P529delFs

c.1584_1585delGC

5 papers

NM_003490.4

p.E525Q

c.1573G>C

1 paper

NM_003490.4

p.R517R

c.1551T>C

1 paper

NM_003490.4

p.P482delins

c.1444_1445delinsTT

1 paper

NM_003490.4

p.S473F

c.1418C>T

11 papers

NM_003490.4

p.S470N

c.1409G>A

1 paper

NM_003490.4

p.L469_S470delins

c.1407_1409delinsAAA

3 papers

NM_003490.4

p.P468S

c.1402C>T

3 papers

NM_003490.4

p.R443H

c.1328G>A

1 paper

NM_003490.4

p.N537H

c.1609A>C

1 paper

NM_003490.4

p.R568H

c.1703G>A