Varaico: Literature-Extracted Genetic Variants

Gene:RTN1
Variant:p.C104*

RTN1

124 papers

RefSeq Summary

This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroe...

Pfam Domains

Reticulonaa 6–170UCSCReticulon
Reticulonaa 589–753UCSCReticulon

Gene Aliases

HGNC Name

reticulon 1

HGNC Previous Symbol

NSP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021136.3
p.C104*
c.312T>A
Surrounding Variants
1 paper
NM_021136.3
p.S103L
c.308C>T
1 paper
NM_021136.3
p.Y105insFs
c.315dupC
1 paper
NM_021136.3
p.K98insFs
c.293_294insC
3 papers
NM_021136.3
p.T95I
c.284C>T
1 paper
NM_021136.3
p.S94*
c.281C>G
1 paper
NM_021136.3
p.S94*
c.281C>A
1 paper
NM_021136.3
p.S87C
c.259A>T
1 paper
NM_021136.3
p.T124A
c.370A>G
1 paper
NM_021136.3
p.V82A
c.245T>C
1 paper
NM_021136.3
p.I136F
c.406A>T
1 paper
NM_021136.3
p.E141K
c.421G>A
1 paper
NM_021136.3
p.G155R
c.463G>C
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