Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.V447M

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
1 paper
NM_020451.3
p.V447M
c.1339G>A
Surrounding Variants
1 paper
NM_020451.3
p.H448L
c.1343A>T
2 papers
NM_020451.3
p.N444_K445del1
c.1332_1334delCAA
1 paper
NM_020451.3
p.E443delFs
c.1327delG
1 paper
NM_020451.3
p.L452insFs
c.1356dupG
1 paper
NM_020451.3
p.W453R
c.1357T>A
1 paper
NM_020451.3
p.W453R
c.1357T>C
1 paper
NM_020451.3
p.W453fs
c.1357_1358fs
9 papers
NM_020451.3
p.W453S
c.1358G>C
9 papers
NM_020451.3
p.R439*
c.1315C>T
NM_206926.2
p.R405*
c.1213C>T
1 paper
NM_020451.3
p.R439fs
c.1315_1316fs
2 papers
NM_020451.3
p.A455D
c.1364C>A
1 paper
NM_020451.3
p.R439delFs
c.1315delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."