Varaico: Literature-Extracted Genetic Variants

Gene:SECISBP2
Variant:p.C691S

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.C691S
c.2071T>A
Surrounding Variants
18 papers
NM_024077.5
p.C691R
c.2071T>C
1 paper
NM_024077.5
p.C691S
c.2072G>C
1 paper
NM_024077.5
p.K687fs
c.2059_2060fs
2 papers
NM_024077.5
p.N697K
c.2091C>A
2 papers
NM_024077.5
p.N697K
c.2091C>G
1 paper
NM_024077.5
p.E699A
c.2096A>C
1 paper
NM_024077.5
p.K682T
c.2045A>C
5 papers
NM_024077.5
p.K682fs
c.2044_2045fs
1 paper
NM_024077.5
p.K682fs
c.2044_2045fs
2 papers
NM_024077.5
p.K682_H683delFs
c.2045_2048del4
5 papers
NM_024077.5
p.E679D
c.2037G>C
6 papers
NM_024077.5
p.E679D
c.2037G>T
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