Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.M515V

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.M515V
c.1543A>G
Surrounding Variants
3 papers
NM_024077.5
p.M515fs
c.1543_1544fs
1 paper
NM_024077.5
p.M515fs
c.1543_1544fs
8 papers
NM_024077.5
p.S510_L514insFs
c.1529_1541dup13
2 papers
NM_024077.5
p.T530A
c.1588A>G
1 paper
NM_024077.5
p.R496C
c.1486C>T
29 papers
NM_024077.5
p.R540Q
c.1619G>A
3 papers
NM_024077.5
p.Q571*
c.1711C>T
1 paper
NM_024077.5
p.M584insFs
c.1751_1752dupTG
1 paper
NM_024077.5
p.P616A
c.1846C>G
1 paper
NM_024077.5
p.K623E
c.1867A>G
1 paper
NM_024077.5
p.R627S
c.1879C>A
1 paper
NM_024077.5
p.R627L
c.1880G>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."