Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.P52delFs

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
7 papers
NM_024077.5
p.P52delFs
c.155delC
Surrounding Variants
1 paper
NM_024077.5
p.Q55*
c.163C>T
1 paper
NM_024077.5
p.V59E
c.176T>A
1 paper
NM_024077.5
p.C41S
c.122G>C
1 paper
NM_024077.5
p.C41S
c.121T>A
1 paper
NM_024077.5
p.A28T
c.82G>A
1 paper
NM_024077.5
p.R26delFs
c.77delG
2 papers
NM_024077.5
p.R26fs
c.76_77fs
4 papers
NM_024077.5
p.P22R
c.65C>G
1 paper
NM_024077.5
p.P22T
c.64C>A
1 paper
NM_024077.5
p.G13D
c.38G>A
1 paper
NM_024077.5
p.E12_G13Splc
c.37-5C>G
1 paper
NM_024077.5
p.S11R
c.33C>A
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