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.I377V

c.1129A>G

Surrounding Variants

5 papers

NM_178862.3

p.F384V

c.1150T>G

1 paper

NM_178862.3

p.T374A

c.1120A>G

2 papers

NM_178862.3

p.L331L

c.991C>T

1 paper

NM_178862.3

p.K394E

c.1180A>G

1 paper

NM_178862.3

p.H419R

c.1256A>G

1 paper

NM_178862.3

p.V422_L429delFs

c.1265_1286del22

1 paper

NM_178862.3

p.F313C

c.938T>G

1 paper

NM_178862.3

p.G312V

c.935G>T

1 paper

NM_178862.3

p.T296S

c.887C>G

1 paper

NM_178862.3

p.T296S

c.886A>T

1 paper

NM_178862.3

p.A444G

c.1331C>G

2 papers

NM_178862.3

p.I448V

c.1342A>G