Varaico: Literature-Extracted Genetic Variants

Gene:SELENOI
Variant:p.E392E

SELENOI

43 papers

RefSeq Summary

The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to d...

Pfam Domains

CDP-OH_P_transfaa 47–209UCSCCDP-alcohol phosphatidyltransferase

Gene Aliases

HGNC Name

selenoprotein I

HGNC Previous Symbol

EPT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033505.4
p.E392E
c.1176A>G
Surrounding Variants
1 paper
NM_033505.4
p.P377S
c.1129C>T
1 paper
NM_033505.4
p.V366L
c.1096G>C
1 paper
NM_033505.4
p.V366L
c.1096G>T
1 paper
NM_033505.4
p.E343Q
c.1027G>C
1 paper
NM_033505.4
p.T304_C305Splc
c.913-1G>T
1 paper
NM_033505.4
p.A299A
c.897T>C
1 paper
NM_033505.4
p.S280L
c.839C>T
1 paper
NM_033505.4
p.Y257H
c.769T>C
4 papers
NM_033505.4
p.R244Splc
c.732-2A>G
1 paper
NM_033505.4
p.G228D
c.683G>A
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