Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.L482delFs

SELENON

263 papers

RefSeq Summary

This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium ...

Gene Aliases

HGNC Name

selenoprotein N

HGNC Previous Symbols

RSMD1; MDRS1; SEPN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_020451.3
p.L482delFs
c.1446delC
Surrounding Variants
1 paper
NM_020451.3
p.L482fs
c.1444_1445fs
1 paper
NM_020451.3
p.L482F
c.1444C>T
2 papers
NM_020451.3
p.N483fs
c.1447_1448fs
1 paper
NM_020451.3
p.E484E
c.1452G>A
1 paper
NM_020451.3
p.S485insFs
c.1455dupC
1 paper
NM_020451.3
p.P477H
c.1430C>A
2 papers
NM_020451.3
p.S476L
c.1427C>T
1 paper
NM_020451.3
p.T489delFs
c.1465_1466delAC
1 paper
NM_020451.3
p.T489fs
c.1465_1466fs
1 paper
NM_020451.3
p.T489S
c.1466C>G
1 paper
NM_020451.3
p.E474A
c.1421A>C
1 paper
NM_020451.3
p.W490*
c.1469G>A
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