Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.R128*

SECISBP2

113 papers

RefSeq Summary

The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon...

Pfam Domains

Ribosomal_L7Aeaa 657–759UCSCRibosomal protein L7Ae/L30e/S12e/Gadd45 family

Gene Aliases

HGNC Name

SECIS binding protein 2

HGNC Alias Symbol

SBP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
32 papers
NM_024077.5
p.R128*
c.382C>T
Surrounding Variants
2 papers
NM_024077.5
p.K126*
c.376A>T
18 papers
NM_024077.5
p.R120*
c.358C>T
1 paper
NM_024077.5
p.Y119*
c.357C>A
1 paper
NM_024077.5
p.Y119*
c.357C>G
1 paper
NM_024077.5
p.Y119C
c.356A>G
1 paper
NM_024077.5
p.Q137*
c.409C>T
1 paper
NM_024077.5
p.Y111*
c.333T>A
1 paper
NM_024077.5
p.Y111*
c.333T>G
1 paper
NM_024077.5
p.S109Y
c.326C>A
1 paper
NM_024077.5
p.G108G
c.324C>A
1 paper
NM_024077.5
p.D98V
c.293A>T
2 papers
NM_024077.5
p.Y95fs
c.283_284fs
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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."