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

Selected Variant

1 paper

NM_178862.3

p.I148M

c.444A>G

Surrounding Variants

1 paper

NM_178862.3

p.H154Y

c.460C>T

1 paper

NM_178862.3

p.V164I

c.490G>A

1 paper

NM_178862.3

p.T185A

c.553A>G

2 papers

NM_178862.3

p.G198_I205del8

c.592_614del24

1 paper

NM_178862.3

p.I207V

c.619A>G

1 paper

NM_178862.3

p.R214W

c.640C>T

1 paper

NM_178862.3

p.T141_V142Splc

c.423+1G>A

1 paper

NM_178862.3

p.F119L

c.357C>A

1 paper

NM_178862.3

p.F119L

c.357C>G

1 paper

NM_178862.3

p.F119L

c.355T>C

1 paper

NM_178862.3

p.S116F

c.347C>T

1 paper

NM_178862.3

p.S110delFs

c.330delA