Varaico: Literature-Extracted Genetic Variants

Gene:SELENOI
Variant:p.R112P

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
9 papers
NM_033505.4
p.R112P
c.335G>C
Surrounding Variants
4 papers
NM_033505.4
p.R112C
c.334C>T
1 paper
NM_033505.4
p.L128L
c.382C>T
1 paper
NM_033505.4
p.V138M
c.412G>A
1 paper
NM_033505.4
p.T149A
c.445A>G
1 paper
NM_033505.4
p.V191_T192Splc
c.574-28T>A
1 paper
NM_033505.4
p.D220D
c.660C>T
1 paper
NM_033505.4
p.G228D
c.683G>A
2 papers
NM_033505.4
p.H82N
c.244C>A
1 paper
NM_033505.4
p.G81V
c.242G>T
1 paper
NM_033505.4
p.G81C
c.241G>T
1 paper
NM_033505.4
p.L52Q
c.155T>A
3 papers
NM_033505.4
p.P45L
c.134C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."