Varaico: Literature-Extracted Genetic Variants

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

1–12 of 80 variants

5 papers

NM_178862.3

p.F384V

c.1150T>G

3 papers

NM_178862.3

p.K513_A514Splc

c.1539+20G>T

2 papers

NM_178862.3

p.A66_Q69delFs

c.198_205del8

2 papers

NM_178862.3

p.G198_I205del8

c.592_614del24

2 papers

NM_178862.3

p.L331L

c.991C>T

2 papers

NM_178862.3

p.I448V

c.1342A>G

1 paper

NM_178862.3

p.P4L

c.11C>T

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.P19R

c.56C>G

1 paper

NM_178862.3

p.H33Fs

c.97_98delinsCFs

1 paper

NM_178862.3

p.G46S

c.136G>A