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.Y572H

c.1714T>C

Surrounding Variants

1 paper

NM_178862.3

p.S559R

c.1677C>A

1 paper

NM_178862.3

p.S559R

c.1677C>G

1 paper

NM_178862.3

p.S559R

c.1675A>C

1 paper

NM_178862.3

p.E525K

c.1573G>A

1 paper

NM_178862.3

p.D582Y

c.1744G>T

1 paper

NM_178862.3

p.D582A

c.1745A>C

1 paper

NM_178862.3

p.D583A

c.1748A>C

1 paper

NM_178862.3

p.D583E

c.1749T>A

1 paper

NM_178862.3

p.D583E

c.1749T>G

1 paper

NM_178862.3

p.A599T

c.1795G>A

1 paper

NM_178862.3

p.D606A

c.1817A>C

1 paper

NM_178862.3

p.M614T

c.1841T>C