Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2

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
1–12 of 114 variants
32 papers
NM_024077.5
p.R128*
c.382C>T
29 papers
NM_024077.5
p.R540Q
c.1619G>A
19 papers
NM_024077.5
p.K438*
c.1312A>T
18 papers
NM_024077.5
p.R120*
c.358C>T
18 papers
NM_024077.5
p.C691R
c.2071T>C
17 papers
NM_024077.5
p.R770*
c.2308C>T
13 papers
NM_024077.5
p.Q79*
c.235C>T
12 papers
NM_024077.5
p.F223delFs
c.668delT
10 papers
NM_024077.5
p.Q782*
c.2344C>T
9 papers
NM_024077.5
p.R197*
c.589C>T
8 papers
NM_024077.5
p.S510_L514insFs
c.1529_1541dup13
7 papers
NM_024077.5
p.P52delFs
c.155delC
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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."