Varaico: Literature-Extracted Genetic Variants

Gene:STT3B
Variant:p.A66_Q69delFs

STT3B

86 papers

RefSeq Summary

The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycos...

Pfam Domains

STT3aa 71–472UCSCOligosaccharyl transferase STT3, N-terminal
STT3-PglB_coreaa 597–676UCSCSTT3/PglB/AglB core domain

Gene Aliases

HGNC Name

STT3 oligosaccharyltransferase complex catalytic subunit B

HGNC Alias Symbols

SIMP; FLJ90106; STT3-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_178862.3
p.A66_Q69delFs
c.198_205del8
Surrounding Variants
1 paper
NM_178862.3
p.L62Q
c.185T>A
1 paper
NM_178862.3
p.F74S
c.221T>C
1 paper
NM_178862.3
p.G47A
c.140G>C
1 paper
NM_178862.3
p.G46S
c.136G>A
1 paper
NM_178862.3
p.H33Fs
c.97_98delinsCFs
1 paper
NM_178862.3
p.D103Y
c.307G>T
1 paper
NM_178862.3
p.P19R
c.56C>G
1 paper
NM_178862.3
p.S13W
c.38C>G
1 paper
NM_178862.3
p.S13L
c.38C>T
1 paper
NM_178862.3
p.P4L
c.11C>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."