Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.E460K

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
1 paper
NM_024077.5
p.E460K
c.1378G>A
Surrounding Variants
1 paper
NM_024077.5
p.L450V
c.1348T>G
1 paper
NM_024077.5
p.S478*
c.1433C>A
1 paper
NM_024077.5
p.S478*
c.1433C>G
1 paper
NM_024077.5
p.V441I
c.1321G>A
19 papers
NM_024077.5
p.K438*
c.1312A>T
1 paper
NM_024077.5
p.Q428E
c.1282C>G
1 paper
NM_024077.5
p.R418I
c.1253G>T
1 paper
NM_024077.5
p.E404_D405Splc
c.1212+29G>A
2 papers
NM_024077.5
p.E376delFs
c.1126delG
1 paper
NM_024077.5
p.A366V
c.1097C>T
1 paper
NM_024077.5
p.K363_S364Splc
c.1090-2A>G
1 paper
NM_024077.5
p.R496C
c.1486C>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."