Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.K623E

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.K623E
c.1867A>G
Surrounding Variants
1 paper
NM_024077.5
p.R627S
c.1879C>A
1 paper
NM_024077.5
p.R627L
c.1880G>T
1 paper
NM_024077.5
p.R630W
c.1888A>T
1 paper
NM_024077.5
p.P616A
c.1846C>G
1 paper
NM_024077.5
p.D631fs
c.1891_1892fs
1 paper
NM_024077.5
p.M584insFs
c.1751_1752dupTG
1 paper
NM_024077.5
p.Y632*
c.1896C>A
1 paper
NM_024077.5
p.Y632*
c.1896C>G
1 paper
NM_024077.5
p.V641delFs
c.1921delG
1 paper
NM_024077.5
p.R672*
c.2014C>T
5 papers
NM_024077.5
p.E679D
c.2037G>C
6 papers
NM_024077.5
p.E679D
c.2037G>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."