Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.Y285H

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.Y285H
c.853T>C
Surrounding Variants
1 paper
NM_020451.3
p.Y286*
c.858C>A
1 paper
NM_020451.3
p.Y286*
c.858C>G
2 papers
NM_020451.3
p.V288delFs
c.863_864delTG
1 paper
NM_020451.3
p.F290delFs
c.869_870delTC
1 paper
NM_020451.3
p.R291W
c.871C>T
6 papers
NM_020451.3
p.R291Q
c.872G>A
1 paper
NM_020451.3
p.R291Splc
c.872+1G>A
1 paper
NM_020451.3
p.R291Splc
c.872+2T>C
1 paper
NM_020451.3
p.A276ins1
c.827_828insCCT
4 papers
NM_020451.3
p.A276_C277ins0
c.827_829dupCCT
3 papers
NM_020451.3
p.A274P
c.820G>C
4 papers
NM_020451.3
p.G273E
c.818G>A
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