Varaico: Literature-Extracted Genetic Variants

Gene:SYP
Variant:p.E62Q

SYP

443 papers

RefSeq Summary

This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated memb...

Pfam Domains

MARVELaa 21–221UCSCMembrane-associating domain

Gene Aliases

HGNC Name

synaptophysin

HGNC Alias Symbol

MRX96

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003179.3
p.E62Q
c.184G>C
Surrounding Variants
1 paper
NM_003179.3
p.E62K
c.184G>A
1 paper
NM_003179.3
p.E62D
c.186G>C
1 paper
NM_003179.3
p.C57_A58insFs
c.171_172insG
1 paper
NM_003179.3
p.I67M
c.201C>G
1 paper
NM_003179.3
p.V55E
c.164T>A
1 paper
NM_003179.3
p.F75V
c.223T>G
1 paper
NM_003179.3
p.S46T
c.137G>C
1 paper
NM_003179.3
p.G45S
c.133G>A
1 paper
NM_003179.3
p.A37G
c.110C>G
1 paper
NM_003179.3
p.F36V
c.106T>G
1 paper
NM_003179.3
p.V31V
c.93G>A
2 papers
NM_003179.3
p.V31insFs
c.91_92ins5
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