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.K513_A514Splc

c.1539+2T>G

Surrounding Variants

3 papers

NM_178862.3

p.K513_A514Splc

c.1539+20G>T

1 paper

NM_178862.3

p.Q507P

c.1520A>C

1 paper

NM_178862.3

p.I474V

c.1420A>G

1 paper

NM_178862.3

p.R459P

c.1376G>C

2 papers

NM_178862.3

p.I448V

c.1342A>G

1 paper

NM_178862.3

p.A444G

c.1331C>G

1 paper

NM_178862.3

p.E525K

c.1573G>A

1 paper

NM_178862.3

p.S559R

c.1675A>C

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.Y572H

c.1714T>C

1 paper

NM_178862.3

p.V422_L429delFs

c.1265_1286del22