Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.G463V

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
4 papers
NM_020451.3
p.G463V
c.1388G>T
Surrounding Variants
3 papers
NM_020451.3
p.G463Splc
c.1388-1G>C
1 paper
NM_020451.3
p.G463Splc
c.1388-2A>G
5 papers
NM_020451.3
p.R466W
c.1396C>T
21 papers
NM_020451.3
p.R466Q
c.1397G>A
7 papers
NM_020451.3
p.R469W
c.1405C>T
8 papers
NM_020451.3
p.R469Q
c.1406G>A
NM_206926.2
p.R435Q
c.1304G>A
1 paper
NM_020451.3
p.R469L
c.1406G>T
1 paper
NM_020451.3
p.E474A
c.1421A>C
2 papers
NM_020451.3
p.S476L
c.1427C>T
1 paper
NM_020451.3
p.P477H
c.1430C>A
1 paper
NM_020451.3
p.L482fs
c.1444_1445fs
1 paper
NM_020451.3
p.L482F
c.1444C>T
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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."